ClinVar Miner

Submissions for variant NM_001349253.2(SCN11A):c.408C>T (p.Ile136=)

gnomAD frequency: 0.00010  dbSNP: rs148425367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488370 SCV000575348 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing SCN11A: BP4, BP7
Invitae RCV001078506 SCV001095371 likely benign Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement 2024-01-28 criteria provided, single submitter clinical testing

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