ClinVar Miner

Submissions for variant NM_003250.6(THRA):c.1416dup (p.Ser473fs)

dbSNP: rs2145097039
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730005 SCV001976743 pathogenic Congenital nongoitrous hypothyroidism 6 2021-10-01 criteria provided, single submitter clinical testing PVS1, PM2, PP3, PP4

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