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
16	14	12	0	3	43

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
PPM1D	16	14	12	3	43

Submitter and significance breakdown #

Total submitters: 30

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	5	0	0	0	5
Revvity Omics, Revvity	0	2	3	0	5
Institute of Human Genetics, University of Leipzig Medical Center	1	1	2	0	4
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
MGZ Medical Genetics Center	1	1	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	2	0	0	0	2
Laboratory of Medical Genetics, University of Torino	1	1	0	0	2
3billion, Medical Genetics	0	2	0	0	2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	0	0	2	2
Institute of Human Genetics, Cologne University	0	0	1	0	1
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
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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	1	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	0	1	0	1
Molecular Genetics Laboratory, Motol Hospital	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
DASA	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	1
Department of Human Genetics, Hannover Medical School	1	0	0	0	1
Laboratory of Medical and Molecular Genetics, The National Medical Research Center for Endocrinology	0	0	0	1	1

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