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
33 24 368 311 111 10 746

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal recessive limb-girdle muscular dystrophy type 2F 28 10 196 224 25 0 473
Qualitative or quantitative defects of delta-sarcoglycan 0 0 151 20 42 0 213
not provided 5 2 82 44 68 0 181
Dilated cardiomyopathy 1L 5 7 98 38 11 0 157
Limb-Girdle Muscular Dystrophy, Recessive 0 0 75 52 10 0 137
Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2 6 92 10 3 0 113
not specified 0 0 17 37 27 9 73
Inborn genetic diseases 0 0 28 32 1 0 61
Dilated Cardiomyopathy, Dominant 0 0 13 1 0 0 14
SGCD-related condition 0 0 2 10 2 0 14
Cardiomyopathy 0 0 2 4 6 0 12
Primary dilated cardiomyopathy 0 0 3 1 0 0 4
Abnormality of the musculature 1 1 0 0 0 0 2
Neuromuscular disease 0 2 0 0 0 0 2
Cardiovascular phenotype 0 0 0 0 1 0 1
Congenital hydrocephalus 0 1 0 0 0 0 1
Dilated cardiomyopathy 1A 0 0 1 0 0 0 1
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: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 8 144 204 15 0 397
Illumina Laboratory Services, Illumina 0 0 152 55 42 0 213
Genome-Nilou Lab 2 3 98 38 12 0 151
GeneDx 2 0 27 51 68 0 148
Fulgent Genetics, Fulgent Genetics 1 0 72 5 2 0 80
Ambry Genetics 0 0 28 32 2 0 62
Eurofins Ntd Llc (ga) 2 0 44 3 9 0 58
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 11 9 14 9 45
Counsyl 1 6 29 6 1 0 43
Revvity Omics, Revvity 2 1 26 0 0 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 7 5 13 0 25
PreventionGenetics, part of Exact Sciences 0 0 2 15 7 0 24
Athena Diagnostics Inc 0 0 1 3 9 0 13
Baylor Genetics 3 7 1 0 0 0 11
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 1 4 6 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 4 5 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 6 3 0 10
CeGaT Center for Human Genetics Tuebingen 0 0 3 2 4 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 6 1 0 9
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 5 1 2 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 3 0 8
OMIM 7 0 0 0 0 0 7
Clinical Genetics, Academic Medical Center 0 0 0 0 7 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 1 0 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 4 0 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 1 0 3
AiLife Diagnostics, AiLife Diagnostics 0 1 2 0 0 0 3
Mendelics 0 0 0 0 2 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 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
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 0 2
Genetics and Genomics Program, Sidra Medicine 0 0 1 1 0 0 2
New York Genome Center 0 0 2 0 0 0 2
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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 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
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 0 0 0 1
Myriad Genetics, Inc. 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1

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