ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.294+8T>C (rs11748588)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041404 SCV000065099 benign not specified 2009-05-28 criteria provided, single submitter clinical testing
Invitae RCV000225840 SCV000284649 benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000041404 SCV000303684 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041404 SCV000333704 benign not specified 2015-08-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370209 SCV000455482 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326043 SCV000455484 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000030451 SCV000901635 benign Cardiomyopathy 2016-05-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287392 SCV001474080 benign none provided 2020-04-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000041404 SCV001476086 benign not specified 2019-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001529045 SCV001942876 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030451 SCV000053120 benign Cardiomyopathy 2010-12-22 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV000041404 SCV000152722 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529045 SCV001741837 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000041404 SCV001921074 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000041404 SCV001926511 benign not specified no assertion criteria provided clinical testing

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