ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.724C>T (p.Leu242=)

gnomAD frequency: 0.00120  dbSNP: rs200800133
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248176 SCV000319869 likely benign Cardiovascular phenotype 2015-07-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) RCV000379802 SCV000343902 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV001084888 SCV000562870 benign Long QT syndrome 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000379802 SCV001945136 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000379802 SCV003800101 likely benign not provided 2022-11-02 criteria provided, single submitter clinical testing

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