ClinVar Miner

Variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2C

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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 total
79 63 147 182 31 466

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SGCG 70 63 143 175 28 443
SACS, SGCG 1 0 2 7 3 13
LINC00362, LOC130009362, LOC130009363, LOC130009364, LOC130009365, LOC130009366, LOC130009367, LOC130009368, LOC130009369, LOC132090179, SACS, SGCG 2 0 1 0 0 3
LOC130009363, LOC130009364, SGCG 2 0 0 0 0 2
MIPEP, PCOTH, SACS, SGCG, TNFRSF19 2 0 0 0 0 2
LINC00362, LOC130009362, LOC132090179, SGCG 0 0 1 0 0 1
LINC00362, LOC132090179, SGCG 1 0 0 0 0 1
LOC130009362, SGCG 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 64 13 111 173 21 382
Natera, Inc. 7 2 42 6 8 65
Revvity Omics, Revvity 9 9 41 0 0 59
Baylor Genetics 17 29 1 0 0 47
Counsyl 1 17 2 1 0 21
Fulgent Genetics, Fulgent Genetics 3 2 11 0 0 16
Genome-Nilou Lab 0 0 5 0 7 12
Illumina Laboratory Services, Illumina 0 0 2 7 2 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 3 1 3 8
OMIM 6 0 0 0 0 6
Pars Genome Lab 0 0 0 0 6 6
Neuberg Centre For Genomic Medicine, NCGM 0 2 4 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 0 0 0 0 5
Myriad Genetics, Inc. 0 3 1 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 2
Athena Diagnostics 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
GeniaGeo, Laboratorio Genia 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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