Variants studied for Goldberg-Shprintzen syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

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
10	8	44	4	8	71

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	9	5	36	3	6	59
KIFBP, LOC130003959	1	1	8	1	2	10
NEK9	0	2	0	0	0	2

Submitter and significance breakdown #

Total submitters: 22

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	30	3	8	41
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	1	0	0	0	2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	2	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	2
Genetic Services Laboratory, University of Chicago	0	0	2	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	2	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	2
Revvity Omics, Revvity	0	0	2	0	0	2
3billion	0	1	0	0	0	1
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	1	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	1
Medical Genetics, Haseki Training and Research Hospital	0	1	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	1
Suma Genomics	1	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1

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