ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.2001C>T (p.Cys667=)

gnomAD frequency: 0.00148  dbSNP: rs58207445
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000885846 SCV001029319 benign not provided 2023-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000885846 SCV001988856 benign not provided 2021-08-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000885846 SCV004033572 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing CACNA1G: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000885846 SCV005250058 benign not provided criteria provided, single submitter not provided

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