ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.727C>G (p.Arg243Gly)

dbSNP: rs121918707
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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 RCV000582665 SCV000692408 uncertain significance Thyroid hormone resistance, generalized, autosomal dominant 2014-09-30 no assertion criteria provided clinical testing

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