ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2030_2267+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Translational Medicine Center of Children Development and Disease, Fudan University 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.

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