ClinVar Miner

Variants in gene BLM

Minimum submission review status: Collection method:
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Gene type:
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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
166 130 1167 455 55 30 1808

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bloom syndrome 150 121 1072 346 49 0 1638
Hereditary cancer-predisposing syndrome 37 11 327 164 12 0 549
not provided 10 5 70 65 4 1 152
not specified 0 0 14 29 28 29 78
Hereditary breast and ovarian cancer syndrome 0 3 15 0 0 0 18
Microcephaly 0 0 3 0 0 0 3
Colorectal cancer 2 0 0 0 0 0 2
Hereditary Disorder 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 133 38 973 341 45 0 1530
Ambry Genetics 36 11 319 156 12 0 534
Natera, Inc. 2 3 142 34 5 0 186
Counsyl 5 84 35 4 0 0 128
Mendelics 9 4 52 19 0 0 84
Illumina Clinical Services Laboratory,Illumina 4 0 46 10 15 0 75
GeneDx 9 2 39 6 17 0 73
Integrated Genetics/Laboratory Corporation of America 16 8 12 9 10 0 55
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 0 23 6 10 0 44
ITMI 0 0 0 0 0 29 29
Genetic Services Laboratory, University of Chicago 0 0 6 13 3 0 22
Fulgent Genetics,Fulgent Genetics 5 0 14 0 0 0 19
GeneKor MSA 1 0 14 3 0 0 18
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 3 15 0 0 0 18
PreventionGenetics, PreventionGenetics 0 0 0 5 10 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 3 2 8 2 0 0 15
Baylor Genetics 2 0 12 0 0 0 14
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 8 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 0 0 0 4 0 7
Pathway Genomics 3 0 1 2 0 0 6
OMIM 4 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 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 1 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 0 0 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 3
Nilou-Genome Lab 0 0 1 0 2 0 3
GeneReviews 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 2
Center for Medical Genetics Ghent,University of Ghent 2 0 0 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 2
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 2 0 0 0 0 0 2
Myriad Women's Health, Inc. 2 0 0 0 0 0 2
Genomic Center,National Cancer Institute 2 0 0 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
SNPedia 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Individualized Medicine,Mayo Clinic 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
Greehey Children's Cancer Research Institute,UT Health San Antonio 1 0 0 0 0 0 1

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