ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.846C>A (p.Pro282=)

gnomAD frequency: 0.00001  dbSNP: rs1352832546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001444809 SCV001647821 likely benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000875207 SCV001983193 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004997442 SCV005621137 benign not specified 2024-07-05 criteria provided, single submitter clinical testing

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