ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.1058T>C (p.Ile353Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV004018042 SCV004847231 pathogenic Thyroid hormone resistance, generalized, autosomal dominant 2022-08-07 criteria provided, single submitter clinical testing

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