ClinVar Miner

Variants studied for Bloom syndrome

Included ClinVar conditions (1):
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
74 94 440 114 31 704

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 74 94 440 114 31 704

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 41 12 373 100 29 555
Counsyl 5 83 35 4 0 127
Mendelics 5 3 44 3 0 55
Illumina Clinical Services Laboratory,Illumina 4 0 26 8 1 39
GeneReviews 34 0 0 0 0 34
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 Miraca Genetics Laboratories, 1 0 1 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 1 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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

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