ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4399-17_4399-16insA

gnomAD frequency: 0.00030  dbSNP: rs569037217
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245241 SCV000309321 benign not specified criteria provided, single submitter clinical testing
Invitae RCV002058129 SCV002448362 benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-01-31 criteria provided, single submitter clinical testing

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