ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1851C>T (p.Ala617=)

gnomAD frequency: 0.16252  dbSNP: rs2075674
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248610 SCV000309476 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000020542 SCV000465807 benign Hemochromatosis type 3 2018-01-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000355274 SCV001000512 benign Hereditary hemochromatosis 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000020542 SCV001762741 benign Hemochromatosis type 3 2021-07-10 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000248610 SCV004025144 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712002 SCV005267707 benign not provided criteria provided, single submitter not provided
GeneReviews RCV000020542 SCV000041008 not provided Hemochromatosis type 3 no assertion provided literature only
Natera, Inc. RCV001272113 SCV001453762 benign Hereditary hemochromatosis type 4 2020-09-16 no assertion criteria provided clinical testing

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