ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=)

gnomAD frequency: 0.00001  dbSNP: rs760994682
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731092 SCV000526038 likely benign not provided 2020-09-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731092 SCV000858866 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000731092 SCV000892542 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV001411308 SCV001613367 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-03 criteria provided, single submitter clinical testing

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