ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1248C>G (p.Pro416=)

gnomAD frequency: 0.00002  dbSNP: rs1158411031
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001444995 SCV001648014 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-06-15 criteria provided, single submitter clinical testing

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