ClinVar Miner

Submissions for variant NM_003235.5(TG):c.5995C>T (p.Arg1999Trp)

gnomAD frequency: 0.37641  dbSNP: rs2076740
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251808 SCV000309491 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277644 SCV000472074 benign Iodotyrosyl coupling defect 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001723563 SCV001950508 benign not provided 2019-04-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14657345)
Genome-Nilou Lab RCV000277644 SCV002098901 benign Iodotyrosyl coupling defect 2021-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001723563 SCV004382008 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723563 SCV005270985 benign not provided criteria provided, single submitter not provided
OMIM RCV000013533 SCV000033780 risk factor Autoimmune thyroid disease, susceptibility to, 3 2004-12-01 no assertion criteria provided literature only

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