ClinVar Miner

Variants in gene BLM

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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 drug response not provided total
382 232 2325 1426 137 3 32 4167

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Bloom syndrome 347 210 1856 1177 83 0 3 3490
Hereditary cancer-predisposing syndrome 111 32 1227 608 15 0 0 1962
not provided 23 15 186 88 60 0 1 343
not specified 0 0 86 45 36 0 29 163
BLM-related condition 6 0 18 32 4 0 0 60
Hereditary breast ovarian cancer syndrome 0 3 15 0 0 0 0 18
Ovarian cancer 0 3 0 0 8 0 0 11
Hereditary cancer 0 0 0 7 0 0 0 7
Inborn genetic diseases 0 0 4 0 0 0 0 4
Microcephaly 0 0 3 0 0 0 0 3
Olaparib response 0 0 0 0 0 3 0 3
Colorectal cancer 2 0 0 0 0 0 0 2
Familial cancer of breast; Endometrial carcinoma; Colorectal cancer 1 0 0 0 0 0 0 1
Hereditary disease 0 0 0 0 1 0 0 1
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 82
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Invitae 323 66 1749 1138 72 0 0 3348
Ambry Genetics 110 29 1199 594 12 0 0 1944
Natera, Inc. 25 14 489 97 24 0 0 649
GeneDx 19 7 104 43 67 0 0 240
Sema4, Sema4 4 3 65 49 5 0 0 126
Quest Diagnostics Nichols Institute San Juan Capistrano 7 2 69 29 19 0 0 126
Counsyl 5 81 35 4 0 0 0 125
Baylor Genetics 40 65 17 0 0 0 0 122
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 24 13 37 14 12 0 0 100
Mendelics 11 4 52 26 5 0 0 98
Genetic Services Laboratory, University of Chicago 1 1 47 34 5 0 0 88
Illumina Laboratory Services, Illumina 4 0 46 10 15 0 0 75
PreventionGenetics, part of Exact Sciences 6 0 18 35 13 0 0 72
Fulgent Genetics, Fulgent Genetics 9 12 36 4 0 0 0 61
Eurofins Ntd Llc (ga) 5 0 23 6 10 0 0 44
CeGaT Center for Human Genetics Tuebingen 5 2 5 21 0 0 0 33
Revvity Omics, Revvity 15 5 10 0 0 0 0 30
ITMI 0 0 0 0 0 0 29 29
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 25 0 0 0 0 27
Genome-Nilou Lab 0 1 11 3 12 0 0 27
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 1 21 1 1 0 0 26
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 22 0 0 24
GeneKor MSA 1 0 14 3 0 0 0 18
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 3 15 0 0 0 0 18
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 1 1 10 2 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 9 0 0 11
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 3 0 0 8 0 0 11
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 4 4 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 6 1 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 0 1 1 2 0 0 8
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 8 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 4 0 0 7
Pathway Genomics 3 0 1 2 0 0 0 6
Myriad Genetics, Inc. 2 3 0 0 0 0 0 5
OMIM 4 0 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 1 1 1 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 0 0 0 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 2 1 0 0 0 0 3
Pars Genome Lab 0 0 2 1 0 0 0 3
Department of Thoracic Surgery and State Key Laboratory of Genetic Engineering, Fudan University Shanghai Cancer Center 0 0 0 0 0 3 0 3
GeneReviews 0 0 0 0 0 0 2 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 2
Center for Medical Genetics Ghent, University of Ghent 2 0 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 0 2
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 2 0 0 0 0 0 0 2
Genomic Center, National Cancer Institute 2 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 0 1
SNPedia 0 0 0 0 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Medical Genetics, Medical University Pleven 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 0 1
Greehey Children's Cancer Research Institute, UT Health San Antonio 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 0 1
DASA 1 0 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 0 1

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