ClinVar Miner

Variants studied for Bloom syndrome

Coded as:
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 total
67 96 551 51 2 742

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BLM 67 96 551 51 2 742

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 52 15 484 20 0 571
Counsyl 6 84 35 4 0 129
Mendelics 9 4 52 19 0 84
Illumina Clinical Services Laboratory,Illumina 4 0 26 8 1 39
Fulgent Genetics,Fulgent Genetics 5 0 14 0 0 19
Integrated Genetics/Laboratory Corporation of America 10 7 0 0 0 17
Pathway Genomics 3 0 1 2 0 6
OMIM 4 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
Baylor Genetics 1 0 1 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 0 0 0 2
GeneReviews 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 1 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 2
Institute of Human Genetics,University of Goettingen 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Center for Individualized Medicine,Mayo Clinic 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1

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