ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.4432-14T>C

gnomAD frequency: 0.00780  dbSNP: rs73969177
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002087874 SCV002377980 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494155 SCV002800592 benign Developmental and epileptic encephalopathy, 62; Epilepsy, familial focal, with variable foci 4 2022-01-16 criteria provided, single submitter clinical testing

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