ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.990G>A (p.Thr330=)

gnomAD frequency: 0.00005  dbSNP: rs371837699
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780078 SCV000917101 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV001491316 SCV001695903 likely benign Long QT syndrome 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386361 SCV002691306 likely benign Cardiovascular phenotype 2018-05-02 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.
CeGaT Center for Human Genetics Tuebingen RCV003326494 SCV004033178 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing CACNA1C: BP4, BP7

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