ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.903C>T (p.Phe301=)

gnomAD frequency: 0.00006  dbSNP: rs17846910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721450 SCV000534539 likely benign not provided 2020-03-10 criteria provided, single submitter clinical testing
Invitae RCV000966715 SCV001114063 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-11 criteria provided, single submitter clinical testing

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