ClinVar Miner

Variants in gene SGCD

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
12 9 179 115 45 10 325

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Delta-sarcoglycanopathy 0 0 75 52 10 0 137
Dilated Cardiomyopathy, Dominant 0 0 75 52 10 0 137
Limb-Girdle Muscular Dystrophy, Recessive 0 0 75 52 10 0 137
not provided 3 1 53 34 23 0 99
not specified 0 0 13 37 23 9 69
Limb-girdle muscular dystrophy, type 2F 8 1 37 5 4 0 54
Dilated cardiomyopathy 1L; Limb-girdle muscular dystrophy, type 2F 1 6 29 6 1 0 43
Cardiomyopathy 0 0 1 5 4 0 9
Cardiovascular phenotype 0 0 0 2 3 0 5
Dilated cardiomyopathy 1L 2 0 2 0 0 0 3
Neuromuscular Diseases 0 2 0 0 0 0 2
Primary dilated cardiomyopathy 0 0 2 0 0 0 2
Familial dilated cardiomyopathy 0 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 1 0 0 0 1 0 0 1
Large for gestational age 0 0 0 0 0 1 1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC 1 0 0 0 0 0 1
Small for gestational age 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 75 52 10 0 137
Invitae 3 1 37 26 7 0 74
GeneDx 1 1 10 35 21 0 68
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 44 3 9 0 58
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 2 11 9 14 9 45
Counsyl 1 6 29 6 1 0 43
PreventionGenetics,PreventionGenetics 0 0 0 5 5 0 10
Athena Diagnostics Inc 0 0 0 2 6 0 8
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 4 4 0 8
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 5 1 2 0 8
OMIM 7 0 0 0 0 0 7
Ambry Genetics 0 0 0 2 3 0 5
Genetic Services Laboratory, University of Chicago 0 0 0 2 1 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 1 0 3
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 3 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 1 0 2
Mendelics 0 0 0 0 2 0 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 0 0 0 1

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