ClinVar Miner

Variants in gene combination FANCA, ZNF276

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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
77 27 147 76 23 15 317

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 25 8 76 66 11 0 186
Fanconi anemia, complementation group A 59 21 85 8 17 0 175
not provided 4 1 8 7 0 0 20
not specified 0 0 1 3 6 15 20
Microcephaly 0 0 2 0 0 0 2
Neuroblastoma 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 8 75 66 10 0 184
Leiden Open Variation Database 59 2 18 0 0 0 79
Illumina Clinical Services Laboratory,Illumina 0 0 39 7 15 0 61
Counsyl 4 15 15 1 0 0 35
Natera, Inc. 2 0 15 3 6 0 26
ITMI 0 0 0 0 0 15 15
Baylor Genetics 0 0 7 0 0 0 7
PreventionGenetics, PreventionGenetics 0 0 0 2 5 0 7
GeneDx 2 1 1 0 0 0 4
Mendelics 0 1 2 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 1 2 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 2 0 0 0 3
OMIM 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 1 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 2 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Center for Individualized Medicine,Mayo Clinic 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 0 1
Department of Pathology and Genetics,University of Gothenburg 0 1 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1
Department of Medical Genetics,Faculty of Medicine, Istanbul University 0 0 1 0 0 0 1
International Fanconi Anemia Registry,The Rockefeller University 0 1 0 0 0 0 1

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