ClinVar Miner

Variants in gene KRT16

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
18 5 55 50 31 19 145

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 11 0 26 40 30 19 111
Inborn genetic diseases 0 0 25 1 0 0 26
Pachyonychia congenita 1 12 1 2 0 2 0 17
KRT16-related disorder 1 0 0 9 6 0 16
Pachyonychia congenita 1; Palmoplantar keratoderma, nonepidermolytic, focal 1 3 3 4 1 0 0 11
Palmoplantar keratoderma, nonepidermolytic, focal 1 3 1 1 0 2 0 7
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Palmoplantar keratoderma, epidermolytic 0 0 1 0 0 0 1
not specified 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4 0 20 35 29 0 88
Ambry Genetics 0 0 25 1 0 0 26
Epithelial Biology; Institute of Medical Biology, Singapore 0 0 0 0 0 19 19
GeneDx 10 0 3 1 4 0 18
PreventionGenetics, part of Exact Sciences 1 0 0 9 6 0 16
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 11 0 14
OMIM 13 0 0 0 0 0 13
Fulgent Genetics, Fulgent Genetics 3 3 2 1 0 0 9
CeGaT Center for Human Genetics Tuebingen 0 0 0 5 1 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 1
Mendelics 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 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.