ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.1033G>T (p.Gly345Cys)

dbSNP: rs121918686
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583540 SCV000692423 likely pathogenic Thyroid hormone resistance, generalized, autosomal dominant 2015-06-22 no assertion criteria provided clinical testing

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