ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.1040G>A (p.Gly347Glu)

dbSNP: rs28999971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000013373 SCV000033620 pathogenic Thyroid hormone resistance, generalized, autosomal dominant 1994-05-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000013373 SCV000692425 pathogenic Thyroid hormone resistance, generalized, autosomal dominant 2015-05-07 no assertion criteria provided clinical testing

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