ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2146A>C (p.Arg716=)

dbSNP: rs1177414657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001442364 SCV001645313 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2019-10-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002276518 SCV002563613 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing SCN9A: PM2, BP4

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