ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=)

gnomAD frequency: 0.00004  dbSNP: rs764453012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000334292 SCV000339639 uncertain significance not provided 2016-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001454207 SCV001657927 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000334292 SCV001776708 likely benign not provided 2019-08-09 criteria provided, single submitter clinical testing

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