ClinVar Miner

Submissions for variant NM_000601.6(HGF):c.333A>G (p.Glu111=)

gnomAD frequency: 0.09752  dbSNP: rs5745635
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036553 SCV000060208 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Glu111Glu in Exon 03 of HGF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 27.9% (1043/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs5745635)."
PreventionGenetics, part of Exact Sciences RCV000036553 SCV000305369 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327792 SCV000470117 likely benign Nonsyndromic Hearing Loss, Mixed 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000036553 SCV000717147 benign not specified 2017-10-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000711896 SCV000842307 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Invitae RCV000711896 SCV002336252 benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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.