ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1083-11T>C

gnomAD frequency: 0.00002  dbSNP: rs777235021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417525 SCV000531202 likely benign not provided 2019-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002522471 SCV002969393 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-12-13 criteria provided, single submitter clinical testing

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