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 Pineal hyperplasia AND diabetes mellitus 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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