ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1710C>T (p.Ser570=)

gnomAD frequency: 0.00018  dbSNP: rs770432127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697493 SCV000719978 likely benign not provided 2019-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000636553 SCV000757992 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-08-01 criteria provided, single submitter clinical testing

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