ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=)

gnomAD frequency: 0.00263  dbSNP: rs201145311
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176475 SCV000228137 benign not specified 2015-04-02 criteria provided, single submitter clinical testing
GeneDx RCV001721110 SCV000527793 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing
Invitae RCV000468766 SCV000559280 benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001721110 SCV004147197 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing SCN9A: BP4, BP7, BS2

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