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
14 11 218 189 45 427

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Shprintzen-Goldberg syndrome 14 7 160 86 22 277
not provided 1 2 57 65 11 134
not specified 0 0 12 70 27 102
Cardiovascular phenotype 0 0 21 38 12 71
Inborn genetic diseases 3 0 2 0 0 5
Intellectual disability 0 0 3 0 0 3
Isolated thoracic aortic aneurysm 0 0 3 0 0 3
Marfanoid habitus 0 0 2 0 0 2
Arterial dissection 0 0 1 0 0 1
Disproportionate tall stature 0 1 0 0 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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 2 151 113 22 292
GeneDx 1 2 49 70 30 152
Ambry Genetics 3 0 23 38 12 76
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 14 15 33
PreventionGenetics, PreventionGenetics 0 0 0 10 10 20
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 2 6 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 8 5 0 13
OMIM 10 0 0 0 0 10
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 9 0 0 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 2 4 7
Baylor Genetics 1 0 5 0 0 6
Fulgent Genetics,Fulgent Genetics 0 0 6 0 0 6
Blueprint Genetics 0 1 4 1 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 2 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 0 3
Department of Vascular Biology,Beijing Anzhen Hospital 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 0 1 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
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
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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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