ClinVar Miner

Variants in gene SKI

Minimum submission review status: Collection method:
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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 total
13 8 132 118 33 261

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Shprintzen-Goldberg syndrome 13 5 67 39 17 137
not specified 0 0 12 71 27 102
Cardiovascular phenotype 0 0 23 37 11 71
not provided 1 2 54 8 7 71
Inborn genetic diseases 2 0 1 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

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 1 2 49 62 24 138
Invitae 3 1 61 39 17 121
Ambry Genetics 2 0 24 37 11 74
PreventionGenetics 0 0 0 10 10 20
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 6 7 16
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 5 2 6 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 2 0 7
Fulgent Genetics 0 0 6 0 0 6
Blueprint Genetics, 0 1 4 1 0 6
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
Genetic Services Laboratory, University of Chicago 0 1 1 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 1 0 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1

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