The effect of the variant on RNA or protein function, depending on experimental evidence from submitters.
This price is calculated by NCBI determined by details from submitters. Browse our principles for calculating the overview status. The amount of submissions which contribute to this review status is demonstrated in parentheses.
There is no purposeful proof in ClinVar for this variation. If you have produced useful info for this variation, remember to think about distributing that knowledge to ClinVar.
The global insignificant allele frequency calculated from the 1000 Genomes Venture. The minor allele at this place is indicated in parentheses and may be different within the allele represented by this VCV document.
The condition to the classification, provided by the submitter for this submitted (SCV) record. This column also involves the influenced standing and allele origin of individuals observed using this variant.
The mixture germline classification for this variant, commonly to get a monogenic or Mendelian problem as in the ACMG/AMP suggestions, or for reaction to some drug. This worth is calculated by NCBI determined by knowledge from submitters. Browse our regulations for calculating the aggregate classification.
Read our rules for calculating the evaluation position. This column also features a connection for the submitter’s assertion standards if furnished, and the gathering method.
The amount of variants in ClinVar which can be contained within just this gene, that has a website link to perspective the listing of variants.
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Stars symbolize the mixture critique standing, or the level of assessment supporting the mixture germline classification for this VCV history.
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