ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.15G>C (p.Glu5Asp) (rs549319429)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001701634 SCV000236382 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28144010, 27488758, 30564623)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000183899 SCV000338346 benign not specified 2016-01-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331989 SCV000455467 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389000 SCV000455468 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000639556 SCV000761132 benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2020-11-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170139 SCV001332680 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701634 SCV001930302 likely benign not provided 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.