ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1636-16del

dbSNP: rs754973942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704598 SCV000567634 likely benign not provided 2018-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056747 SCV002479183 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-29 criteria provided, single submitter clinical testing

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