ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.807G>A (p.Pro269=)

gnomAD frequency: 0.00005  dbSNP: rs772730357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001459977 SCV001663835 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-11-05 criteria provided, single submitter clinical testing
GeneDx RCV001587423 SCV001822304 likely benign not provided 2019-01-18 criteria provided, single submitter clinical testing

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