ClinVar Miner

Submissions for variant NM_003235.5(TG):c.1076-1G>C

dbSNP: rs1412480668
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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 RCV005046850 SCV005680150 pathogenic Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 2024-02-12 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV000662333 SCV000784665 likely pathogenic Autoimmune thyroid disease, susceptibility to, 3 2017-09-21 no assertion criteria provided literature only

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