ClinVar Miner

Submissions for variant NM_003235.5(TG):c.5182T>C (p.Cys1728Arg)

gnomAD frequency: 0.00001  dbSNP: rs376200169
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005040114 SCV005679823 likely pathogenic Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 2024-06-12 criteria provided, single submitter clinical testing
Polak associated Lab, IMAGINE Institute RCV001270326 SCV001450549 pathogenic Congenital hypothyroidism no assertion criteria provided clinical testing

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