ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4896C>T (p.Phe1632=)

gnomAD frequency: 0.00005  dbSNP: rs374613316
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546114 SCV000656769 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-09 criteria provided, single submitter clinical testing
GeneDx RCV001696959 SCV000715623 likely benign not provided 2021-01-30 criteria provided, single submitter clinical testing

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