ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.924G>A (p.Val308=)

gnomAD frequency: 0.00011  dbSNP: rs754935637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000935937 SCV001151723 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001498044 SCV001702785 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-11-28 criteria provided, single submitter clinical testing

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