ClinVar Miner

Submissions for variant NM_001081550.2(THOC2):c.2983T>C (p.Tyr995His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289095 SCV002581538 uncertain significance X-linked intellectual disability-short stature-overweight syndrome 2022-05-03 criteria provided, single submitter clinical testing

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