ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5732-7A>G

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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 RCV003781201 SCV004573110 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-03-12 criteria provided, single submitter clinical testing

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