ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)

dbSNP: rs2144647872
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wendy Chung Laboratory, Columbia University Medical Center RCV002227411 SCV002506551 likely pathogenic Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52 2022-03-20 criteria provided, single submitter clinical testing

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