ClinVar Miner

Variants in gene COL12A1

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Gene type:

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
78 87 2236 1683 236 93 3966

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 63 30 1612 1487 144 20 3306
not provided 7 37 700 254 118 2 1073
not specified 0 0 192 181 47 0 395
Inborn genetic diseases 0 1 370 2 0 0 373
COL12A1-related disorder 0 2 34 44 10 2 91
Bethlem myopathy 2 8 14 54 1 6 0 82
Ullrich congenital muscular dystrophy 2 10 8 9 1 6 0 34
Sarcoma 0 0 0 0 0 10 10
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 10 10
Ovarian serous cystadenocarcinoma 0 0 0 0 0 8 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 8 8
Squamous cell lung carcinoma 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 4 4
Familial cancer of breast 0 0 0 0 0 4 4
Gastric cancer 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 4 4
See cases 0 1 2 1 0 0 4
Ullrich congenital muscular dystrophy 0 1 3 0 0 0 4
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Bethlem myopathy 0 0 1 0 0 1 2
Bethlem myopathy 2; Ullrich congenital muscular dystrophy 0 0 0 0 0 2 2
Familial pancreatic carcinoma 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Myopathic Ehlers-Danlos syndrome 2 0 0 0 0 0 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Ovarian cancer 0 0 0 0 0 2 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 2 0 0 0 0 0 2 2
Abnormality of connective tissue 0 1 0 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Bartter disease type 4B 0 0 1 0 0 0 1
Bethlem myopathy 1A 0 0 1 0 0 0 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
Colorectal cancer 0 0 0 0 0 1 1
EMG abnormality; EMG: myotonic runs 0 0 1 0 0 0 1
Ehlers-Danlos syndrome 0 0 1 0 0 0 1
Ehlers-Danlos syndrome; Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 0 0 0 0 0 1 1
Familial prostate cancer 0 0 0 0 0 1 1
Global developmental delay 0 1 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Mesothelioma 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 1 0 0 0 0 1
Ullrich congenital muscular dystrophy; Bethlem myopathy 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 80
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 63 27 1589 1487 144 0 3310
GeneDx 4 20 426 160 116 0 726
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 192 170 16 0 382
Ambry Genetics 0 1 370 2 0 0 373
Revvity Omics, Revvity 1 5 291 16 0 0 313
Mayo Clinic Laboratories, Mayo Clinic 0 6 93 75 35 0 209
CeGaT Center for Human Genetics Tuebingen 1 5 69 57 6 0 138
PreventionGenetics, part of Exact Sciences 0 2 34 58 34 0 128
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 63 63
Fulgent Genetics, Fulgent Genetics 0 1 34 13 0 0 48
Breakthrough Genomics, Breakthrough Genomics 0 0 10 27 0 0 37
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 20 20
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 14 0 1 0 16
Baylor Genetics 0 1 10 0 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 11 11
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 7 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 5 1 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 0 9 0 0 0 9
3billion 3 3 2 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 4 3 1 0 0 8
Clinical Genetics, Academic Medical Center 0 0 0 2 5 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
OMIM 6 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 4 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 2 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 3 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 1 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
MGZ Medical Genetics Center 0 1 2 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 2
Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry 2 0 0 0 0 0 2
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 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
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 1 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 1 0 2
Mendelics 0 0 0 1 1 0 2
New York Genome Center 0 0 2 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 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
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Clinical Genomics, G42 Labs 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 1 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 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
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 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
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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