ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs)

dbSNP: rs606231279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000144933 SCV000191929 pathogenic Neuropathy, hereditary sensory and autonomic, type IId 2013-04-30 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790201 SCV000929593 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences RCV002267728 SCV002549901 pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive 2021-11-16 no assertion criteria provided research

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