ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.*56G>A

gnomAD frequency: 0.00371  dbSNP: rs77554103
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
PreventionGenetics, part of Exact Sciences RCV000246199 SCV000317226 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359383 SCV000371860 likely benign Exostoses, multiple, type 2 2017-04-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000359383 SCV001719995 benign Exostoses, multiple, type 2 2022-11-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706749 SCV005224226 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.