ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1389G>A (p.Glu463=)

gnomAD frequency: 0.00001  dbSNP: rs886043657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000269310 SCV000341335 uncertain significance not provided 2016-05-11 criteria provided, single submitter clinical testing
Invitae RCV001088343 SCV001072415 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-06 criteria provided, single submitter clinical testing

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