The volume of variants in ClinVar that happen to be contained within this gene, by using a link to view the list of variants.
Stars characterize the evaluate standing, or the extent of overview supporting the submitted (SCV) document. This benefit is calculated by NCBI dependant on facts from your submitter.
The problem with the classification, supplied by the submitter for this submitted (SCV) record. This column also involves the impacted status and allele origin of individuals noticed with this variant.
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So this day can be distinct through the date in the “most up-to-date submission” noted at the top of the web site. Support Adhere to NCBI
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The aggregate germline classification for this variant, commonly to get a monogenic or Mendelian ailment as while in the ACMG/AMP guidelines, or for reaction to some drug. This benefit is calculated by NCBI determined by data from submitters. Read through our rules for calculating the mixture classification.
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The result from the variant on RNA or protein purpose, according to experimental evidence from submitters.
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