ClinVar Miner

Submissions for variant NM_199334.5(THRA):c.818C>A (p.Thr273Asn)

dbSNP: rs2145085082
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002226809 SCV002505680 likely pathogenic Congenital nongoitrous hypothyroidism 6 2022-05-03 criteria provided, single submitter clinical testing

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