ClinVar Miner

Submissions for variant NM_000410.3(HFE):c.340+4T>C (rs2071303)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000117221 SCV000227125 benign not specified 2014-10-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117221 SCV000304062 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095120 SCV000461882 benign Hemochromatosis type 1 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000117221 SCV000712466 benign not specified 2016-12-01 criteria provided, single submitter clinical testing c.340+4T>C in intron 2 of HFE: This variant is not expected to have clinical sig nificance because it has been identified in 37.4% (105403/282154) of total chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org/; dbSNP rs2071303).
Invitae RCV000348920 SCV001000013 benign Hereditary hemochromatosis 2020-12-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000860091 SCV001154676 likely benign not provided 2016-10-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001095120 SCV001934137 benign Hemochromatosis type 1 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000860091 SCV001944115 benign not provided 2018-09-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25262004, 10401000, 26799139, 26501199)
Genetic Services Laboratory, University of Chicago RCV000117221 SCV000151393 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000117221 SCV001744519 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000117221 SCV001929344 benign not specified no assertion criteria provided clinical testing

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