ClinVar Miner

Variants in gene BLM

Minimum submission review status: Collection method:
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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 not provided total
108 113 833 349 52 30 1315

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bloom syndrome 87 104 687 194 46 0 1047
Hereditary cancer-predisposing syndrome 37 11 331 160 12 0 549
not provided 10 4 69 66 4 1 151
not specified 0 0 14 28 28 29 72
Hereditary breast and ovarian cancer syndrome 0 3 15 0 0 0 18

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 72 24 609 228 42 0 975
Ambry Genetics 36 11 323 152 12 0 534
Counsyl 6 84 35 4 0 0 129
Mendelics 9 4 52 19 0 0 84
Illumina Clinical Services Laboratory,Illumina 4 0 46 10 15 0 75
GeneDx 10 2 39 6 17 0 74
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 0 23 6 10 0 44
Integrated Genetics/Laboratory Corporation of America 10 7 8 5 9 0 39
ITMI 0 0 0 0 0 29 29
Genetic Services Laboratory, University of Chicago 0 0 8 13 1 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 1 1 7 2 0 0 11
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 2 0 0 0 4 0 6
Pathway Genomics 3 0 1 2 0 0 6
Natera Inc 0 0 1 3 2 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
Baylor Genetics 1 0 1 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 1 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 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
Institute of Human Genetics,University of Goettingen 1 0 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 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
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

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