ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2127A>G (p.Gln709=)

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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 RCV003120098 SCV003796771 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-05-22 criteria provided, single submitter clinical testing

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