ClinVar Miner

Variants in gene SLX4

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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 drug response not provided total
100 38 1298 788 130 1 4 2161

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Fanconi anemia 87 17 1093 641 81 0 0 1890
Fanconi anemia complementation group P 11 11 388 78 66 0 3 537
not provided 7 11 111 101 63 0 1 282
not specified 0 0 96 131 56 0 0 241
Inborn genetic diseases 0 0 83 13 0 0 0 96
SLX4-related condition 0 1 17 35 4 0 0 57
Fanconi anemia complementation group A 2 2 11 2 2 0 0 19
Malignant tumor of breast 0 0 2 0 1 0 0 3
Hereditary cancer-predisposing syndrome 0 0 1 1 0 0 0 2
Glioblastoma multiforme 0 1 0 0 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 0 1
Hereditary breast cancer 0 0 1 0 0 0 0 1
Hereditary cancer 0 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 1
Olaparib response 0 0 0 0 0 1 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Invitae 86 14 1062 624 81 0 0 1867
Fulgent Genetics, Fulgent Genetics 2 4 236 49 1 0 0 292
Illumina Laboratory Services, Illumina 0 0 163 16 55 0 0 234
GeneDx 0 4 58 35 60 0 0 157
Genetic Services Laboratory, University of Chicago 0 1 85 37 23 0 0 146
Sema4, Sema4 0 2 69 64 5 0 0 140
Leiden Open Variation Database 10 0 0 99 0 0 0 109
PreventionGenetics, part of Exact Sciences 0 1 17 40 40 0 0 98
Ambry Genetics 0 0 83 13 0 0 0 96
CeGaT Center for Human Genetics Tuebingen 4 5 14 57 6 0 0 86
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 13 41 0 0 54
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 49 0 1 0 0 52
Baylor Genetics 1 2 39 1 0 0 0 43
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 20 0 0 22
Mendelics 2 2 10 3 3 0 0 20
Revvity Omics, Revvity 1 1 15 0 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 6 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
OMIM 6 0 0 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 0 0 0 5
Center of Medical Genetics and Primary Health Care 0 0 4 0 1 0 0 5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 4 0 0 0 0 5
Gharavi Laboratory, Columbia University 0 0 4 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 1 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Vantari Genetics 0 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Seelig Lab, University of Washington 0 0 0 0 0 0 1 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 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
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 0 1
DASA 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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

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