ClinVar Miner

Variants in gene SGCD

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Gene type:
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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
12 9 170 95 32 10 287

Condition and significance breakdown #

Total conditions: 16
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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 specified 0 0 14 37 23 9 70
Limb-girdle muscular dystrophy, type 2F 8 1 28 16 8 0 61
not provided 3 1 50 1 2 0 56
Dilated cardiomyopathy 1L; Limb-girdle muscular dystrophy, type 2F 1 6 29 6 1 0 43
Cardiomyopathy 0 0 0 5 4 0 8
Cardiovascular phenotype 0 0 0 2 3 0 5
Dilated cardiomyopathy 1L 2 0 2 0 0 0 3
Limb-girdle muscular dystrophy 0 2 0 0 0 0 2
Primary dilated cardiomyopathy 0 0 2 0 0 0 2
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: 23
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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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 44 3 9 0 58
Invitae 3 1 28 15 7 0 54
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 11 9 14 9 45
GeneDx 1 1 10 25 8 0 45
Counsyl 1 6 29 6 1 0 43
PreventionGenetics 0 0 0 5 5 0 10
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 4 4 0 8
Biesecker Lab/Human Development 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
Athena Diagnostics Inc 0 0 0 1 3 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 2 1 0 3
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 1 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 1 0 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 2 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 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 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

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