ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4048T>C (p.Cys1350Arg)

dbSNP: rs1323162486
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University RCV001375675 SCV001572593 pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive no assertion criteria provided research

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