ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4077T>C (p.Phe1359=)

gnomAD frequency: 0.00001  dbSNP: rs1205678504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762062 SCV000892313 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing SCN9A: BP4, BP7
Invitae RCV001088559 SCV001008073 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2023-05-15 criteria provided, single submitter clinical testing

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