ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.507G>A (p.Ala169=) (rs10071079)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041408 SCV000065103 benign not specified 2012-07-03 criteria provided, single submitter clinical testing 1.5% (59/3856) of Afr Amer chrom from ESP
Illumina Clinical Services Laboratory,Illumina RCV000379606 SCV000455491 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278176 SCV000455492 benign Qualitative or quantitative defects of delta-sarcoglycan 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000335615 SCV000455493 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001083717 SCV000562853 benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617174 SCV000739909 benign Cardiovascular phenotype 2013-11-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770207 SCV000901637 benign Cardiomyopathy 2016-11-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000473741 SCV001145591 benign not provided 2019-06-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000041408 SCV001363521 benign not specified 2019-08-24 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.