ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.6951G>A (p.Glu2317=)

gnomAD frequency: 0.00003  dbSNP: rs544050662
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000918139 SCV001063438 benign not provided 2024-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000918139 SCV002000671 likely benign not provided 2022-04-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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