ClinVar Miner

Variants in gene combination FANCA, ZNF276

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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 not provided total
7 19 61 30 13 15 121

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 2 3 41 26 9 0 75
Fanconi anemia, complementation group A 6 17 18 1 1 0 41
not specified 0 0 1 4 5 15 20
not provided 3 1 4 0 0 0 8
Neuroblastoma 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 3 21 13 6 0 45
Illumina Clinical Services Laboratory,Illumina 0 0 23 13 3 0 39
Counsyl 5 15 15 1 0 0 36
ITMI 0 0 0 0 0 15 15
PreventionGenetics 0 0 0 2 5 0 7
GeneDx 2 1 1 0 0 0 4
Fulgent Genetics 0 1 2 0 0 0 3
OMIM 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 2 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Division of Genomic Diagnostics,The 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
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

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