Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
The Translational Medicine Center of Children Development and Disease, |
RCV000578857 | SCV000579325 | pathogenic | Rabson-Mendenhall syndrome | 2017-02-28 | criteria provided, single submitter | clinical testing | One pathogenic mutation (c.3355C>T, p.Arg1119Trp) and a novel 2.43Kb deletion (chr19:7150507-7152938) in INSR were found in a Chinses neonate by Next Generation Sequencing test using ClearSeq. The patient is diagnosed as Rabson-Mendenhall syndrome. Follow-up Sanger sequencing and real-time quantitative PCR confirm the variants. We, therefore, supposed these variants were candidate mutations of this family. |