ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)

dbSNP: rs1268938831
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003336040 SCV004046553 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2023-04-06 criteria provided, single submitter clinical testing

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