ClinVar Miner

Submissions for variant NM_000601.6(HGF):c.270T>C (p.Asp90=)

gnomAD frequency: 0.00009  dbSNP: rs145598174
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724491 SCV000228907 uncertain significance not provided 2015-02-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215168 SCV000270266 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asp90Asp in Exon 03 of HGF: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue, is not located within th e splice consensus sequence, and has been identified in 1/7018 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs145598174).
PreventionGenetics, part of Exact Sciences RCV000215168 SCV000305368 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724491 SCV001043435 likely benign not provided 2024-10-28 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.