ClinVar Miner

Variants in gene ERCC4

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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
19 9 249 82 46 31 385

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 7 4 121 38 16 0 186
Xeroderma pigmentosum, group F 2 1 104 27 32 0 166
not provided 3 3 31 19 2 0 57
not specified 0 0 7 10 11 31 49
Fanconi anemia, complementation group Q 4 0 16 0 0 0 20
Hutchinson-Gilford syndrome 0 2 2 0 0 0 4
XFE progeroid syndrome 3 0 1 0 0 0 4
Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia, complementation group Q 1 0 2 0 0 0 3
Xeroderma pigmentosum, type F/Cockayne syndrome 3 1 0 0 0 0 3
XFE progeroid syndrome; Fanconi anemia, complementation group Q 0 0 2 0 0 0 2
Xeroderma pigmentosum 0 0 0 0 2 0 2
Breast carcinoma 0 0 1 0 0 0 1
Carcinoma of pancreas 0 1 0 0 0 0 1
Hereditary cancer-predisposing syndrome 0 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 0 1
Pre-B-cell acute lymphoblastic leukemia 1 0 0 0 0 0 1
Premature ovarian failure 0 0 1 0 0 0 1
See cases 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 4 121 52 17 0 201
Illumina Clinical Services Laboratory,Illumina 1 0 102 25 34 0 162
ITMI 0 0 0 0 0 31 31
Baylor Genetics 0 0 16 0 0 0 16
Genetic Services Laboratory, University of Chicago 0 1 6 8 1 0 16
Leiden Open Variation Database 5 0 8 0 0 0 13
PreventionGenetics, PreventionGenetics 0 0 0 2 10 0 12
OMIM 11 0 0 0 0 0 11
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 9 1 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 1 0 0 8
Mendelics 0 0 2 5 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 2 2 0 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 3 0 0 0 4
University of Washington Center for Mendelian Genomics, University of Washington 0 2 2 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 0 1
ISCA site 8 0 0 0 0 1 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 1 0 0 0 1
Vantari Genetics 0 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 0 0 0 0 0 1
CZECANCA consortium 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1

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