ClinVar Miner

Submissions for variant NM_003466.4(PAX8):c.203C>T (p.Thr68Ile)

dbSNP: rs1691155605
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Total submissions: 2
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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 RCV001093620 SCV002586415 likely pathogenic Hypothyroidism, congenital, nongoitrous, 2 2022-10-26 criteria provided, single submitter clinical testing
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV001093620 SCV001245528 likely pathogenic Hypothyroidism, congenital, nongoitrous, 2 2020-05-07 no assertion criteria provided research The patient showed classical presentation of congenital primary hypothyroidism with no uptake on thyroid scan.

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