Variants studied for Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

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)
		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
14	13	10	0	1	36

Gene and significance breakdown #

Total genes and gene combinations: 1

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
PPM1D	14	13	10	1	36

Submitter and significance breakdown #

Total submitters: 24

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	5	0	0	0	5
Revvity Omics, Revvity	0	2	3	0	5
Baylor Genetics	1	0	2	0	3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	2	1	0	3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	2	0	0	3
Institute of Human Genetics, University of Leipzig Medical Center	0	1	2	0	3
MGZ Medical Genetics Center	1	1	0	0	2
Laboratory of Medical Genetics, University of Torino	1	1	0	0	2
3billion	0	2	0	0	2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	1	0	0	0	1
Gene Discovery Core-Manton Center, Boston Children's Hospital	1	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	1	0	0	0	1
Undiagnosed Diseases Network, NIH	1	0	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	1	0	0	1
New York Genome Center	0	0	1	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	1
DASA	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	1
Laboratory of Medical and Molecular Genetics, The National Medical Research Center for Endocrinology	0	0	0	1	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.