ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2922G>A (p.Glu974=)

dbSNP: rs1361813971
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001431914 SCV001634676 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-03-06 criteria provided, single submitter clinical testing

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