ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.3601C>T (p.Arg1201Trp) (rs1568426700)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Research Institute,Tokyo Medical and Dental University RCV000755004 SCV000809013 pathogenic Insulin resistance 2017-10-04 no assertion criteria provided research Patient, a 41 year-old woman, was not obese. She underwent OGTT and showed hyperinsulinemia and had severe insulin resistance whereas she was not diabetic. This mutation was heterozygous.

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