ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.5949C>G (p.Ser1983Arg)

dbSNP: rs201640210
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000728376 SCV000293913 uncertain significance not provided 2020-07-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001080041 SCV000649381 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-01-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728376 SCV000855938 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing

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