ClinVar Miner

Submissions for variant NM_000208.2:c.[2504G>T;2525C>T]

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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 RCV000496805 SCV000503035 pathogenic Pineal hyperplasia AND diabetes mellitus syndrome 2014-06-02 no assertion criteria provided research Patient, a 13 year-old girl, showed hirsutism, acanthosis nigricans and dental abnormality including malalignment. She showed hyperinsulinemia and had severe insulin resistance. This mutaion was confirmed compound heterozygosity.

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