ClinVar Miner

Variants studied for Goldberg-Shprintzen 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
9 8 44 4 8 69

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
KIFBP 8 5 36 3 6 57
KIFBP, LOC130003959 1 1 8 1 2 10
NEK9 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 31 3 8 42
Clinical Genetics, Erasmus University Medical Center 0 0 6 0 0 6
OMIM 5 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 0 0 0 4
Fulgent Genetics, Fulgent Genetics 1 0 1 1 0 3
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 1 0 0 0 1
Medical Genetics, Haseki Training and Research Hospital 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1

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