ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.1312del (p.Arg438fs)

dbSNP: rs1553609179
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000581901 SCV000033645 pathogenic Thyroid hormone resistance, generalized, autosomal dominant 2001-11-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000581901 SCV000692430 pathogenic Thyroid hormone resistance, generalized, autosomal dominant 2013-02-22 no assertion criteria provided clinical testing

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