ClinVar Miner

Variants studied for Fanconi anemia complementation group J

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
487 178 2605 1337 64 6 4540

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BRIP1 480 177 2596 1337 64 6 4523
BRIP1, LOC130061360 4 0 4 0 0 0 8
BRIP1, LOC110120932, LOC130061360 1 0 4 0 0 0 5
BRIP1, INTS2 2 0 0 0 0 0 2
BRIP1, LOC110120932 0 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 465 121 2488 1307 44 0 4425
Counsyl 8 33 103 34 11 0 189
Illumina Laboratory Services, Illumina 0 0 97 14 24 0 135
Fulgent Genetics, Fulgent Genetics 15 14 75 4 2 0 110
Revvity Omics, Revvity 22 8 15 1 0 0 46
Mendelics 1 1 25 0 1 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 7 0 0 0 0 20
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 16 0 0 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 2 2 3 3 1 0 11
Leiden Open Variation Database 10 0 1 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 7 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Juno Genomics, Hangzhou Juno Genomics, Inc 1 4 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 1 0 0 4
Baylor Genetics 1 0 3 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 0 1 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 1 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
OMIM 2 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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