ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg)

gnomAD frequency: 0.87930  dbSNP: rs6746030
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811006 SCV000605064 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV001513087 SCV001720623 benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807278 SCV002054605 benign Primary erythromelalgia 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807279 SCV002054606 benign Channelopathy-associated congenital insensitivity to pain, autosomal recessive 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807280 SCV002054608 benign Paroxysmal extreme pain disorder 2021-07-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726204 SCV001963040 benign not specified no assertion criteria provided clinical testing

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