ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val)

gnomAD frequency: 0.00006  dbSNP: rs745997744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803302 SCV000943166 likely benign Long QT syndrome 2023-09-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532202 SCV001747645 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345797 SCV002649366 likely benign Cardiovascular phenotype 2023-05-12 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.

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