ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1171-19C>A

gnomAD frequency: 0.00001  dbSNP: rs929127955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780699 SCV000918184 likely benign not specified 2024-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067370 SCV002460289 likely benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-06 criteria provided, single submitter clinical testing

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