ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp)

gnomAD frequency: 0.00007  dbSNP: rs750269576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518358 SCV000615129 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765524 SCV000896838 uncertain significance Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001203277 SCV001374433 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2023-09-28 criteria provided, single submitter clinical testing

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