ClinVar Miner

Variants in gene SLX4

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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
37 11 607 306 88 1 943

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 20 3 449 144 69 0 685
Fanconi anemia, complementation group P 12 3 200 16 55 0 285
not specified 0 0 27 113 43 0 147
not provided 4 2 29 79 2 1 117
Fanconi anemia, complementation group A 2 2 11 2 2 0 19
Malignant tumor of breast 0 0 2 0 1 0 3
Hereditary cancer-predisposing syndrome 0 0 1 1 0 0 2
Glioblastoma multiforme 0 1 0 0 0 0 1
Hereditary breast cancer 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 20 3 445 193 70 0 731
Illumina Clinical Services Laboratory,Illumina 0 0 167 16 55 0 238
Leiden Open Variation Database 10 0 0 99 0 0 109
Genetic Services Laboratory, University of Chicago 0 0 22 15 6 0 43
PreventionGenetics, PreventionGenetics 0 0 0 5 36 0 41
Baylor Genetics 2 2 31 0 0 0 35
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 20 0 22
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 16 3 0 0 22
Mendelics 2 2 11 2 2 0 19
Fulgent Genetics,Fulgent Genetics 0 0 18 0 0 0 18
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 8 1 0 10
GeneDx 0 1 7 1 0 0 9
OMIM 6 0 0 0 0 0 6
Center of Medical Genetics and Primary Health Care 0 0 4 0 1 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Gharavi Laboratory,Columbia University 0 0 4 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 1 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 1 1 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 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
IntelligeneCG 0 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 1 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Human Developmental Genetics,Institut Pasteur 0 0 1 0 0 0 1

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