ClinVar Miner

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

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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
92 128 200 313 19 669

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SGCA 91 128 198 313 19 666
COL1A1, SGCA 0 0 1 0 0 1
LOC121587601, SGCA 0 0 1 0 0 1
TUBA1A 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 80 37 140 310 10 577
Genome-Nilou Lab 18 17 61 7 13 116
Natera, Inc. 11 3 59 9 4 86
Revvity Omics, Revvity 17 17 50 1 0 85
Baylor Genetics 28 46 0 0 0 74
Counsyl 1 30 17 1 0 49
Fulgent Genetics, Fulgent Genetics 5 2 4 0 0 11
Myriad Genetics, Inc. 1 7 1 0 0 9
OMIM 7 0 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 3 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 1 3 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 2 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 0 0 3
Illumina Laboratory Services, Illumina 0 1 2 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 0 2 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 2
Department of Medical Genetics, National Institute of Health 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 2
3billion 0 1 1 0 0 2
Athena Diagnostics 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
GeniaGeo, Laboratorio Genia 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Pars Genome Lab 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 1

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