ClinVar Miner

Submissions for variant NM_001354712.2(THRB):c.*4G>A

gnomAD frequency: 0.00003  dbSNP: rs777224982
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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 RCV000584450 SCV000692438 uncertain significance Thyroid hormone resistance, generalized, autosomal dominant 2014-02-12 no assertion criteria provided clinical testing present with another pathogenic variant, phase not known.

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