ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3045G>A (p.Gly1015=)

gnomAD frequency: 0.00002  dbSNP: rs1400869068
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 RCV000945528 SCV001091553 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-12-14 criteria provided, single submitter clinical testing

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