ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6461G>T (p.Arg2154Leu)

dbSNP: rs754317278
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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 RCV000822268 SCV000963061 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-12-03 criteria provided, single submitter clinical testing

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