ClinVar Miner

Variants in gene COL12A1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
60 56 1591 1324 218 21 2979

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 49 21 1209 1185 129 15 2566
not provided 6 26 491 190 118 1 807
Inborn genetic diseases 0 1 114 1 0 0 116
COL12A1-related condition 0 2 26 37 10 0 75
not specified 0 0 5 14 29 0 47
Bethlem myopathy 2 6 3 27 1 6 0 43
Ullrich congenital muscular dystrophy 2 7 3 9 1 6 0 26
Ullrich congenital muscular dystrophy 0 1 3 0 0 0 4
See cases 0 0 2 1 0 0 3
Bethlem myopathy 0 0 1 0 0 1 2
COL12A1- Related Disorder 0 0 0 0 0 2 2
Ullrich congenital muscular dystrophy 1; Bethlem myopathy 2 0 0 0 0 0 2 2
Abnormality of connective tissue 0 1 0 0 0 0 1
Bethlem myopathy 2; Ullrich congenital muscular dystrophy 0 0 0 0 0 1 1
Cataract 16 multiple types 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2 0 0 1 0 0 0 1
EMG abnormality; EMG: myotonic runs 0 0 1 0 0 0 1
Global developmental delay 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 49 19 1191 1187 129 0 2575
GeneDx 3 15 293 160 116 0 587
Revvity Omics, Revvity 1 5 239 5 0 0 250
Ambry Genetics 0 1 114 1 0 0 116
PreventionGenetics, part of Exact Sciences 0 2 26 51 34 0 113
CeGaT Center for Human Genetics Tuebingen 1 5 47 25 6 0 84
Fulgent Genetics, Fulgent Genetics 0 1 29 13 0 0 43
Mayo Clinic Laboratories, Mayo Clinic 0 1 16 0 0 0 17
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 15 15
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 7 0 10
Baylor Genetics 0 1 8 0 0 0 9
Clinical Genetics, Academic Medical Center 0 0 0 2 5 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
OMIM 6 0 0 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 5 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 6 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 4 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 2 0 4
MGZ Medical Genetics Center 0 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 1 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 1 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 1 1 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Mendelics 0 0 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
3billion 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 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
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1

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