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The number of variants in ClinVar for this gene, including smaller variants throughout the gene and bigger CNVs that overlap or completely have the gene.
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This column includes additional information supporting the classification, including citations, the touch upon classification, and comprehensive proof offered as observations with the variant because of the submitter.
The ailment for the classification, supplied by the submitter for this submitted (SCV) report. This column also includes the affected standing and allele origin of individuals observed with this particular variant.
The number of variants in ClinVar which might be contained in just this gene, with a link to perspective the list of variants.
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The influence from the variant on RNA or protein functionality, depending on experimental proof from submitters.
There won't be any citations for germline classification of this variant in ClinVar. If you already know of citations for this variation, please contemplate distributing that data to login thr777 ClinVar.
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