ClinVar Miner

Submissions for variant NM_003235.5(TG):c.48G>A (p.Trp16Ter)

gnomAD frequency: 0.00001  dbSNP: rs780846892
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV001170075 SCV001250735 pathogenic Iodotyrosyl coupling defect 2020-05-14 no assertion criteria provided research The patient showed classical presentation of congenital primary hypothyroidism with goitre.

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