ClinVar Miner

Variants in gene SGCD

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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
15 11 284 130 74 10 441

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Qualitative or quantitative defects of delta-sarcoglycan 0 0 151 20 42 0 213
Limb-Girdle Muscular Dystrophy, Recessive 0 0 75 52 10 0 137
Autosomal recessive limb-girdle muscular dystrophy type 2F 11 3 75 36 8 0 132
not provided 3 1 53 19 17 0 89
not specified 0 0 14 38 24 9 71
Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 1 6 29 6 1 0 43
Dilated Cardiomyopathy, Dominant 0 0 13 1 0 0 14
Cardiomyopathy 0 0 1 4 6 0 11
none provided 0 0 2 1 4 0 7
Cardiovascular phenotype 0 0 0 2 3 0 5
Primary dilated cardiomyopathy 0 0 3 1 0 0 4
Dilated cardiomyopathy 1L 2 0 2 0 0 0 3
Neuromuscular disease 0 2 0 0 0 0 2
Dilated cardiomyopathy 1A 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
Primary familial dilated cardiomyopathy 0 0 1 0 0 0 1
Small for gestational age 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 152 55 42 0 213
Invitae 7 3 75 38 7 0 130
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
Integrated Genetics/Laboratory Corporation of America 0 0 2 1 8 0 11
Athena Diagnostics Inc 0 0 0 2 8 0 10
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 4 6 0 10
PreventionGenetics, PreventionGenetics 0 0 0 5 5 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 3 4 0 9
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 4 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 1 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 2 1 0 3
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 3
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
Genetics and Genomics Program,Sidra Medicine 0 0 1 1 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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