ClinVar Miner

Variants in gene PMS1

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 not provided total
2 2 64 19 29 22 121

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 47 6 1 22 74
not provided 0 0 10 10 21 0 41
Lynch syndrome 1 0 0 5 1 2 0 8
Ovarian cancer 0 2 0 0 6 0 8
PMS1-related disorder 0 0 0 3 2 0 5
Hereditary breast ovarian cancer syndrome 0 0 1 2 0 0 3
PMS1-related breast cancer 0 0 2 0 0 0 2
Polyp of colon 0 0 2 0 0 0 2
Colorectal cancer 1 0 0 0 0 0 1
Hereditary nonpolyposis colorectal carcinoma 0 0 1 0 0 0 1
Hereditary nonpolyposis colorectal neoplasms 0 0 0 1 0 0 1
Lynch syndrome 0 0 1 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 0 0 40 4 0 0 44
ITMI 0 0 0 0 0 22 22
Breakthrough Genomics, Breakthrough Genomics 0 0 2 4 11 0 17
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 7 9 0 16
GeneDx 1 0 1 0 13 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 3 2 0 12
Genetic Services Laboratory, University of Chicago 0 0 7 2 1 0 10
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 2 0 0 6 0 8
PreventionGenetics, part of Exact Sciences 0 0 0 3 2 0 5
Baylor Genetics 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 2 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 1 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 0 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Laboratorio De Regulación De La Expresión Génica Y Genómica De Cáncer, Departamento De Genética, Facultad De Medicina, Udelar 0 0 0 1 0 0 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.