ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)

gnomAD frequency: 0.00003  dbSNP: rs749587119
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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) RCV000710977 SCV000706587 uncertain significance not provided 2017-03-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710977 SCV000841293 likely benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001439451 SCV001642337 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-08-03 criteria provided, single submitter clinical testing

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