ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser)

gnomAD frequency: 0.00002  dbSNP: rs1383144531
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518651 SCV000612522 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764182 SCV000895184 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2018-10-31 criteria provided, single submitter clinical testing

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