ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.561A>G (p.Gln187=)

gnomAD frequency: 0.00755  dbSNP: rs74430256
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080070 SCV001019279 benign Mucopolysaccharidosis type 7 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080070 SCV001322680 benign Mucopolysaccharidosis type 7 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000675837 SCV000801560 benign not provided 2017-06-28 no assertion criteria provided 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.