thr777 Secrets
thr777 Secrets
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the impact of sequence modifications on RNA splicing propose that this variant may generate or bolster a splice web-site. In summary, the accessible evidence is at the moment insufficient to ascertain the part of the variant in sickness. Consequently, it has been categorised for a Variant of Uncertain Importance.
This benefit is calculated by NCBI determined by info from submitters. Read our policies for calculating the critique status. The quantity of submissions which contribute to this review status is proven in parentheses.
There isn't a purposeful proof in ClinVar for this variation. Should you have produced useful details for this variation, remember to look at publishing that facts to ClinVar.
The global minimal allele frequency calculated by the a thousand Genomes Challenge. The small allele at this spot is indicated in parentheses and may be unique from the allele represented by this VCV history.
The problem for the classification, supplied by the submitter for this submitted (SCV) history. This column also incorporates the influenced status and allele origin of people observed with this variant.
The aggregate germline classification for this variant, generally to get a monogenic or Mendelian problem as from the ACMG/AMP recommendations, or for response to a drug. This value is calculated by NCBI based upon knowledge from submitters. Study our procedures for calculating the mixture classification.
Read our rules for calculating the critique status. This column also features a url to your submitter’s assertion requirements if offered, and the collection technique.
The submitting Firm for this submitted (SCV) history. This column also consists of the SCV accession and Edition selection, the date this SCV 1st appeared in ClinVar, and the day that this SCV was past up-to-date in ClinVar.
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The amount of variants in ClinVar for this gene, which includes smaller sized variants within the gene and bigger CNVs that overlap or absolutely incorporate the gene.
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Stars signify the critique position, or the extent of assessment supporting the submitted (SCV) record. This benefit is calculated by NCBI according to data within the submitter.