ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3613A>G (p.Ser1205Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795871 SCV005418750 uncertain significance Primary erythromelalgia; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive criteria provided, single submitter clinical testing PM2_Supporting+PP3+PP4

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