ClinVar Miner

Variants in gene COL27A1

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
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
83 81 551 1583 119 54 2387

Condition and significance breakdown #

Total conditions: 32
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 73 57 277 1565 111 0 2064
Inborn genetic diseases 2 1 301 19 0 0 323
Steel syndrome 12 24 18 4 37 0 94
not specified 0 0 48 2 1 0 51
COL27A1-related disorder 1 1 1 27 8 0 38
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 8 8
Clear cell carcinoma of kidney 0 0 0 0 0 7 7
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Gastric cancer 0 0 0 0 0 6 6
Malignant tumor of esophagus 0 0 0 0 0 5 5
Melanoma 0 0 0 0 0 5 5
Hepatocellular carcinoma 0 0 0 0 0 4 4
Papillary renal cell carcinoma type 1 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Adrenocortical carcinoma, hereditary 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 3 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 3 3
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Squamous cell carcinoma of the head and neck 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 2 2
Ovarian cancer 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Cervical cancer 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 73 56 251 1555 93 0 2028
Ambry Genetics 2 1 301 19 0 0 323
Breakthrough Genomics, Breakthrough Genomics 0 0 3 18 74 0 95
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 54 54
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 48 2 0 0 54
Genome-Nilou Lab 0 0 1 2 36 0 39
PreventionGenetics, part of Exact Sciences 1 1 1 27 8 0 38
CeGaT Center for Human Genetics Tuebingen 0 0 8 22 0 0 30
GeneDx 1 1 18 0 6 0 26
Fulgent Genetics, Fulgent Genetics 1 12 2 2 1 0 18
Revvity Omics, Revvity 2 2 3 0 0 0 7
Baylor Genetics 0 1 3 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 2 0 0 0 4
OMIM 4 0 0 0 0 0 4
Eurofins Ntd Llc (ga) 0 0 3 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 0 0 0 2
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 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 Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.