ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1639C>A (p.Arg547=)

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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 RCV005136814 SCV005768436 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-04-17 criteria provided, single submitter clinical testing

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