ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.2022C>G (p.Gly674=)

gnomAD frequency: 0.00006  dbSNP: rs574489819
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001569589 SCV001793699 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821898 SCV002064827 likely benign not specified 2020-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001569589 SCV003506709 benign not provided 2025-01-29 criteria provided, single submitter clinical testing

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