ClinVar Miner

Variants in gene SKI

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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 total
21 16 516 531 67 1034

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Shprintzen-Goldberg syndrome 19 10 320 349 34 705
Familial thoracic aortic aneurysm and aortic dissection 0 0 151 255 12 418
not provided 4 3 154 102 23 275
not specified 0 0 14 57 32 94
SKI-related condition 0 0 8 23 0 31
Inborn genetic diseases 5 0 19 2 0 26
Disproportionate tall stature 0 1 2 0 0 3
Intellectual disability 0 0 3 0 0 3
Isolated thoracic aortic aneurysm 0 0 3 0 0 3
Neurodevelopmental disorder 0 1 1 0 0 2
See cases 0 0 2 0 0 2
Arterial dissection 0 0 1 0 0 1
Autism spectrum disorder 0 0 0 1 0 1
Intellectual disability; Joint laxity 0 0 1 0 0 1
Neurodevelopmental abnormality 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 3 292 351 33 688
Ambry Genetics 5 0 170 257 12 444
GeneDx 2 3 130 96 40 271
CeGaT Center for Human Genetics Tuebingen 1 0 18 29 7 55
PreventionGenetics, part of Exact Sciences 0 0 8 32 10 50
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 10 19 15 44
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 5 6 20 32
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 12 1 14
Eurofins Ntd Llc (ga) 0 0 5 2 6 13
Fulgent Genetics, Fulgent Genetics 0 0 9 4 0 13
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 9 4 13
OMIM 10 0 0 0 0 10
Revvity Omics, Revvity 0 0 9 0 0 9
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 9 0 0 0 0 9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 2 4 7
Baylor Genetics 2 0 4 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 5 0 6
Blueprint Genetics 0 1 4 1 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 5 1 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 5
MGZ Medical Genetics Center 0 1 2 1 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 1 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 2 0 0 4
New York Genome Center 0 0 4 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 4
Genetic Services Laboratory, University of Chicago 0 1 1 0 1 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 3
Department of Vascular Biology, Beijing Anzhen Hospital 0 0 3 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
Mendelics 0 0 0 1 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Insititute of Human Genetics, University Giessen, Germany 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 1 0 0 0 0 1

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