ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr)

gnomAD frequency: 0.00001  dbSNP: rs750411964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506792 SCV000602906 uncertain significance not specified 2016-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001206926 SCV001378260 likely benign Long QT syndrome 2024-10-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003456406 SCV004184208 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CACNA1C: BP4

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