ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.624-3dup

dbSNP: rs397756552
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
Eurofins Ntd Llc (ga) RCV000179965 SCV000232291 benign not specified 2014-06-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398716 SCV000384364 likely benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000179965 SCV000538708 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001510867 SCV001718015 benign COG6-congenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001618336 SCV001846673 benign not provided 2020-07-21 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.