ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3489C>T (p.Pro1163=)

gnomAD frequency: 0.00006  dbSNP: rs771567638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704513 SCV000532847 likely benign not provided 2019-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000917276 SCV001062549 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704513 SCV004138000 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7

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