ClinVar Miner

Submissions for variant NM_005647.4(TBL1X):c.1369A>T (p.Ile457Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466944 SCV002761917 uncertain significance Hypothyroidism, congenital, nongoitrous, 8 2022-07-05 criteria provided, single submitter clinical testing The TBL1X c.1369A>T variant is classified as VUS (PM1, PM2, PP3)

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