ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5067+20G>A

gnomAD frequency: 0.00390  dbSNP: rs184517632
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720170 SCV000523043 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Invitae RCV002062546 SCV002401293 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481310 SCV002798958 likely benign Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2022-04-28 criteria provided, single submitter clinical testing

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