ClinVar Miner

Variants in gene OBSCN

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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 not provided total
40 27 3189 2384 334 164 5904

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 3092 2210 6 0 5303
not provided 28 9 108 294 291 0 688
OBSCN-related disorder 0 1 14 130 167 0 312
Ovarian serous cystadenocarcinoma 0 0 0 0 0 41 41
Rhabdomyolysis, susceptibility to, 1 9 12 8 1 4 0 32
Thymoma 0 0 0 0 0 22 22
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 22 22
Malignant tumor of esophagus 0 0 0 0 0 16 16
Uterine corpus endometrial carcinoma 0 0 0 0 0 16 16
Lung cancer 0 0 0 0 0 15 15
Hepatocellular carcinoma 0 0 0 0 0 14 14
Acute myeloid leukemia 0 0 0 0 0 13 13
Cervical cancer 0 0 0 0 0 12 12
Clear cell carcinoma of kidney 0 0 0 0 0 12 12
Gastric cancer 0 0 0 0 0 12 12
Melanoma 0 0 0 0 0 11 11
Sarcoma 0 0 0 0 0 9 9
Familial cancer of breast 0 0 0 0 0 8 8
Familial pancreatic carcinoma 0 0 0 0 0 8 8
Colon adenocarcinoma 0 0 0 0 0 7 7
Nonpapillary renal cell carcinoma 0 0 0 0 0 7 7
Uterine carcinosarcoma 0 0 0 0 0 7 7
Lymphoma 0 0 0 0 0 4 4
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 4 4
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Papillary renal cell carcinoma type 1 0 0 0 0 0 4 4
Ovarian cancer 0 0 0 0 0 3 3
Short stature 0 2 1 0 0 0 3
Uveal melanoma 0 0 0 0 0 3 3
Acute rhabdomyolysis 1 1 0 0 0 0 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 2 2
Inborn genetic diseases 1 0 1 0 0 0 2
Pancreatic adenocarcinoma 0 0 0 0 0 2 2
Cardiomyopathy 0 0 1 0 0 0 1
Familial prostate cancer 0 0 0 0 0 1 1
Germ cell tumor of testis 0 0 0 0 0 1 1
Hearing loss, autosomal recessive 120 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy 1 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy 1; Arrhythmogenic right ventricular dysplasia 9 0 1 0 0 0 0 1
Mesothelioma 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 1 0 3089 2201 0 0 5291
Labcorp Genetics (formerly Invitae), Labcorp 27 6 21 121 246 0 421
PreventionGenetics, part of Exact Sciences 0 1 14 130 167 0 312
CeGaT Center for Human Genetics Tuebingen 1 1 31 178 53 0 264
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 164 164
Breakthrough Genomics, Breakthrough Genomics 0 0 5 26 116 0 147
GeneDx 0 2 22 0 14 0 38
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 13 7 0 21
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 14 0 0 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 10 3 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 5 3 1 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 8 0 0 9
Revvity Omics, Revvity 0 0 9 0 0 0 9
Variantyx, Inc. 0 7 0 0 0 0 7
OMIM 6 0 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 2 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 3 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 1 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 2 0 0 0 0 2
NHS Central & South Genomic Laboratory Hub 1 1 0 0 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 0 0 0 0 0 2
Neuromuscular Disorders Department, Xuanwu Hospital 2 0 0 0 0 0 2
3billion 0 1 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Dasa 0 0 0 0 1 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1

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