ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=)

gnomAD frequency: 0.00004  dbSNP: rs202058956
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001702420 SCV000512450 likely benign not provided 2019-12-27 criteria provided, single submitter clinical testing
Invitae RCV000457023 SCV000562911 likely benign Long QT syndrome 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314047 SCV000848274 likely benign Cardiovascular phenotype 2017-05-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000425928 SCV001426769 benign not specified 2020-07-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504068 SCV002812438 likely benign Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-09-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897707 SCV004714699 likely benign CACNA1C-related disorder 2023-12-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702420 SCV001929198 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702420 SCV001966555 likely benign not provided no assertion criteria provided clinical testing

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