ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5411T>C (p.Val1804Ala)

gnomAD frequency: 0.00006  dbSNP: rs756492434
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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 RCV000456924 SCV000553033 likely benign Long QT syndrome 2023-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002349978 SCV002651559 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.
Fulgent Genetics, Fulgent Genetics RCV002481471 SCV002787720 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-09-08 criteria provided, single submitter clinical testing

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