ClinVar Miner

Variants in gene MINPP1

See also:
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 6 34 6 4 54

Condition and significance breakdown #

Total conditions: 8
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 27 2 0 29
Pontocerebellar hypoplasia, type 16 5 5 4 0 0 10
not provided 0 0 0 4 2 6
MINPP1-related disorder 0 1 0 1 2 4
Thyroid cancer, nonmedullary, 2; Pontocerebellar hypoplasia, type 16 0 0 3 0 0 3
Thyroid cancer, nonmedullary, 2 2 0 0 0 0 2
Pontoneocerebellar hypoplasia 1 0 0 0 0 1
Thyroid adenoma 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 27 2 0 29
OMIM 7 0 0 0 0 7
PreventionGenetics, part of Exact Sciences 0 1 0 1 2 4
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 2 1 3
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 0 2 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 2
GeneDx 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 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.