ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3970C>T (p.Leu1324=)

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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 RCV002900378 SCV003251077 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-12-17 criteria provided, single submitter clinical testing

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