ClinVar Miner

Submissions for variant NM_003235.5(TG):c.6185G>A (p.Trp2062Ter)

dbSNP: rs2491114233
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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 RCV002466834 SCV002761587 pathogenic Iodotyrosyl coupling defect 2019-08-01 criteria provided, single submitter clinical testing

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