ClinVar Miner

Variants in gene combination FANCD2, LOC107303338

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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
38 10 186 79 51 13 325

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 14 4 129 61 27 0 235
Fanconi anemia, complementation group D2 25 3 61 9 24 0 119
not specified 0 0 10 11 32 13 56
not provided 3 3 9 11 3 0 28
Fanconi anemia, complementation group A 0 0 0 6 8 0 14
Inborn genetic diseases 1 0 0 0 0 0 1
Malignant tumor of breast 0 0 1 0 0 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 14 4 129 62 26 0 235
Illumina Clinical Services Laboratory,Illumina 0 0 47 8 24 0 79
Leiden Open Variation Database 24 0 3 0 0 0 27
PreventionGenetics, PreventionGenetics 0 0 0 5 19 0 24
Genetic Services Laboratory, University of Chicago 1 0 6 5 3 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 14 0 15
Mendelics 0 0 0 6 8 0 14
ITMI 0 0 0 0 0 13 13
Baylor Genetics 1 1 10 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 5 1 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 3 0 6
GeneDx 1 2 1 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 3 1 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 1 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
OMIM 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1
Human Developmental Genetics,Institut Pasteur 0 0 1 0 0 0 1

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