ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.941C>T (p.Ser314Phe)

dbSNP: rs1553611075
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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 RCV000584605 SCV000692415 pathogenic Thyroid hormone resistance, generalized, autosomal dominant 2016-01-12 no assertion criteria provided clinical testing

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