ClinVar Miner

Variants in gene SLX4

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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 drug response not provided total
125 66 1591 958 133 1 36 2651

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Fanconi anemia 110 21 1220 785 81 0 0 2188
Fanconi anemia complementation group P 12 36 623 92 71 0 4 804
not provided 9 13 168 153 72 0 1 391
Inborn genetic diseases 0 0 227 32 0 0 0 259
not specified 0 0 99 134 57 0 0 249
SLX4-related disorder 0 1 25 38 4 0 0 68
Fanconi anemia complementation group A 2 2 10 2 2 0 0 18
Hereditary cancer-predisposing syndrome 0 0 3 2 5 0 0 10
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 8 8
Cervical cancer 0 0 0 0 0 0 6 6
Acute myeloid leukemia 0 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 0 4 4
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 4 4
Familial cancer of breast 0 0 1 0 0 0 2 3
Gastric cancer 0 0 0 0 0 0 3 3
Malignant tumor of breast 0 0 2 0 1 0 0 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 3 3
Adrenocortical carcinoma, hereditary 0 0 0 0 0 0 2 2
Hereditary cancer 0 0 0 2 0 0 0 2
Intellectual disability 0 0 2 0 0 0 0 2
Malignant tumor of esophagus 0 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 0 1 1
Fetal anomalies with a likely genetic cause 1 0 0 0 0 0 0 1
Glioblastoma multiforme 0 1 0 0 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 0 1 1
Hereditary breast ovarian cancer syndrome 0 0 1 0 0 0 0 1
Lung cancer 0 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 0 1
Monogenic short statue 0 0 1 0 0 0 0 1
Olaparib response 0 0 0 0 0 1 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 1 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Labcorp Genetics (formerly Invitae), Labcorp 108 18 1193 769 81 0 0 2169
Fulgent Genetics, Fulgent Genetics 2 20 485 52 1 0 0 560
Ambry Genetics 0 0 227 32 0 0 0 259
Illumina Laboratory Services, Illumina 0 0 156 16 55 0 0 227
GeneDx 0 6 88 35 60 0 0 189
Genetic Services Laboratory, University of Chicago 0 2 92 37 23 0 0 154
Sema4, Sema4 0 2 69 64 5 0 0 140
CeGaT Center for Human Genetics Tuebingen 6 6 21 96 4 0 0 133
Leiden Open Variation Database 10 0 0 99 0 0 0 109
PreventionGenetics, part of Exact Sciences 0 1 25 43 40 0 0 109
Breakthrough Genomics, Breakthrough Genomics 0 0 20 39 49 0 0 108
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 13 48 0 0 61
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 15 34 0 0 53
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 49 0 1 0 0 52
Baylor Genetics 1 3 43 1 0 0 0 48
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 31 31
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 4 16 0 0 22
Mendelics 2 2 9 4 3 0 0 20
Revvity Omics, Revvity 1 2 16 0 0 0 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 11 2 0 0 0 17
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 8 1 0 0 10
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 8 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 3 0 0 9
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 7 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 6 0 0 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 6 1 0 0 7
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 2 0 5 0 0 7
OMIM 6 0 0 0 0 0 0 6
Center of Medical Genetics and Primary Health Care 0 0 4 0 1 0 0 5
Dasa 0 1 0 2 2 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 0 1 0 0 5
Gharavi Laboratory, Columbia University 0 0 4 0 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 2 0 0 4
3billion 1 0 0 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 1 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 0 0 0 2
Clinical and Functional Genomics Group, A.C.Camargo Cancer Center 0 1 1 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 1 1 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 1 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 2
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 0 2
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
Department of Thoracic Surgery and State Key Laboratory of Genetic Engineering, Fudan University Shanghai Cancer Center 0 0 0 0 0 1 0 1
EVOGEN 0 1 0 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 0 0 1 0 0 0 0 1
Seelig Lab, University of Washington 0 0 0 0 0 0 1 1
Vantari Genetics 0 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 0 1

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