ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2895G>C (p.Gly965=)

gnomAD frequency: 0.00003  dbSNP: rs1057522107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698148 SCV000526179 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766293 SCV004605287 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-02 criteria provided, single submitter clinical testing

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