ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=)

gnomAD frequency: 0.00001  dbSNP: rs886043571
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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) RCV000406663 SCV000340805 uncertain significance not provided 2016-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001439136 SCV001642020 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-03-29 criteria provided, single submitter clinical testing

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