ClinVar Miner

Submissions for variant NG_008852.1:g.[135909G>T;8170_32961del24792]

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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 RCV000496605 SCV000503034 pathogenic Leprechaunism syndrome 2014-06-02 no assertion criteria provided research Patient, a 1 year-old boy, showed acanthosis nigricans, hypertrichosis, and dysmorphic features, including elfin features and reduced subcutaneous adipose tissue stores. He showed hyperglycemia and hyperinsulinemia. And he had severe insulin resistance. This mutaion was confirmed compound heterozygosity.

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