ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3481= (p.Trp1161=)

gnomAD frequency: 0.12070  dbSNP: rs6746030
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001079293 SCV000299167 benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2025-02-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713170 SCV000843749 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
GeneReviews RCV000020514 SCV000040968 not provided Primary erythromelalgia no assertion provided literature only

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