ClinVar Miner

Variants studied for Shprintzen-Goldberg syndrome

Included ClinVar conditions (1):
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 total
18 5 68 39 17 143

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SKI 13 5 67 39 17 137
KIF1BP 5 0 0 0 0 5
LOC112577524, SKI 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 1 62 39 17 122
OMIM 15 0 0 0 0 15
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 9 0 0 0 0 9
Fulgent Genetics 0 0 6 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
Baylor Miraca Genetics Laboratories, 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Blueprint Genetics, 0 1 0 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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