ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1113G>A (p.Leu371=)

dbSNP: rs1260914439
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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 RCV001454252 SCV001657975 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2023-09-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597928 SCV005092531 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing SCN9A: BP4, BP7

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