ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5931C>T (p.Arg1977=)

gnomAD frequency: 0.00005  dbSNP: rs377136737
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045800 SCV001209673 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-09 criteria provided, single submitter clinical testing

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