ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=) (rs757236915)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587256 SCV000697550 benign not provided 2016-04-26 criteria provided, single submitter clinical testing Variant summary: The c.5931C>T variant affects a non-conserved nucleotide, resulting in a synonymous change. 5/5 programs in Alamut predict that this variant does not affect normal splicing. This variant is found in 6/120128 control chromosomes at a frequency of 0.0000499, which is about 5 times of the maximal expected frequency of a pathogenic allele (0.00001), suggesting this variant is a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as Benign.
Invitae RCV000587256 SCV001433709 likely benign not provided 2018-09-19 criteria provided, single submitter clinical testing

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