ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4621C>T (p.Gln1541Ter)

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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 RCV004796910 SCV005416507 likely pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive criteria provided, single submitter clinical testing PVS1+PM2_Supporting

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