ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1108-2A>G

dbSNP: rs2106493110
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuroalgology unit, Genetics of Neuropathic Pain Laboratory, Fondazione IRCCS Istituto Neurologico Carlo Besta RCV001528149 SCV001738327 pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive no assertion criteria provided research

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