ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4368C>T (p.Ile1456=)

gnomAD frequency: 0.00001  dbSNP: rs1362318488
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001418912 SCV001621155 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2022-01-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481107 SCV004224982 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing BP4

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