ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4668C>A (p.Ile1556=)

gnomAD frequency: 0.00001  dbSNP: rs771245206
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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 RCV001448401 SCV001651492 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-07-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001796500 SCV002034065 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001796500 SCV002037222 likely benign not provided no assertion criteria provided clinical testing

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