ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=)

gnomAD frequency: 0.00004  dbSNP: rs188863534
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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) RCV000726754 SCV000702788 uncertain significance not provided 2016-11-22 criteria provided, single submitter clinical testing
GeneDx RCV000726754 SCV000732065 likely benign not provided 2020-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001400635 SCV001602442 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-29 criteria provided, single submitter clinical testing

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