ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3372G>A (p.Thr1124=)

gnomAD frequency: 0.00003  dbSNP: rs770311284
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000559448 SCV000728066 likely benign not provided 2019-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001418846 SCV001621085 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-13 criteria provided, single submitter clinical testing

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