ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1171-6T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003136425 SCV003820731 uncertain significance not provided 2019-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588868 SCV004285100 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-03-10 criteria provided, single submitter clinical testing

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