ClinVar Miner

Submissions for variant NM_003235.5(TG):c.848G>A (p.Arg283Gln)

gnomAD frequency: 0.00073  dbSNP: rs146926250
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001159940 SCV001321693 uncertain significance Iodotyrosyl coupling defect 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001751292 SCV002006106 uncertain significance not provided 2021-02-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002491464 SCV002778140 uncertain significance Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 2022-01-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV001159940 SCV003836327 uncertain significance Iodotyrosyl coupling defect 2022-03-07 criteria provided, single submitter clinical testing

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