ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu)

gnomAD frequency: 0.00130  dbSNP: rs573961089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575338 SCV001802307 likely benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501930 SCV002809264 likely benign Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2022-03-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001575338 SCV004137965 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing CACNA1A: BS1

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