ClinVar Miner

Variants in gene BLM

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 not provided total
79 97 493 157 42 30 775

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Bloom syndrome 74 94 440 114 31 0 704
Hereditary cancer-predisposing syndrome 9 1 78 65 10 0 161
not provided 9 3 63 1 4 1 80
not specified 0 0 16 26 28 29 72

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 41 12 373 100 29 0 555
Ambry Genetics 8 1 66 57 10 0 142
Counsyl 5 83 35 4 0 0 127
GeneDx 10 2 39 6 17 0 74
Mendelics 5 3 44 3 0 0 55
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 0 23 6 10 0 44
Integrated Genetics/Laboratory Corporation of America 10 7 10 3 9 0 39
Illumina Clinical Services Laboratory,Illumina 4 0 26 8 1 0 39
GeneReviews 34 0 0 0 0 0 34
ITMI 0 0 0 0 0 29 29
Genetic Services Laboratory, University of Chicago 0 0 8 13 1 0 22
Fulgent Genetics 5 0 14 0 0 0 19
GeneKor MSA 1 0 14 3 0 0 18
PreventionGenetics 0 0 0 5 10 0 15
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 8 0 0 8
Pathway Genomics 3 0 1 2 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 4 0 5
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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 1 0 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 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

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