ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5134-4A>G

gnomAD frequency: 0.00010  dbSNP: rs200165596
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087831 SCV001063987 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2025-02-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000918668 SCV001143332 likely benign not provided 2018-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000918668 SCV001802182 likely benign not provided 2020-10-23 criteria provided, single submitter clinical testing

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