ClinVar Miner

Submissions for variant NM_000410.4(HFE):c.189T>C (p.His63=)

gnomAD frequency: 0.00305  dbSNP: rs147426902
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204683 SCV000259266 benign Hereditary hemochromatosis 2024-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001157773 SCV001319373 likely benign Hemochromatosis type 1 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab RCV001157773 SCV003802311 benign Hemochromatosis type 1 2023-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258698 SCV003947099 likely benign Inborn genetic diseases 2023-06-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV004706661 SCV005223298 likely benign not provided criteria provided, single submitter not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.