ClinVar Miner

Variants studied for pycnodysostosis

Included ClinVar conditions (1):
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
28 71 35 8 3 130

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CTSK 28 71 35 8 3 130

Submitter and significance breakdown #

Total submitters: 25
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 15 24 0 0 0 39
Counsyl 0 30 6 0 0 36
Genome-Nilou Lab 2 17 9 1 1 30
Natera, Inc. 3 1 5 7 3 19
Illumina Laboratory Services, Illumina 0 0 18 1 0 19
Myriad Genetics, Inc. 0 14 0 0 0 14
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 5 2 3 0 0 10
Fulgent Genetics, Fulgent Genetics 2 2 4 0 0 8
OMIM 7 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 1 0 0 0 3
Mendelics 1 1 0 0 0 2
Human Genetics Unit, University Of Colombo 1 0 1 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 2
Revvity Omics, Revvity 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
NIDO Danmark, Gødstrup Hospital 0 1 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Laboratory of Medical and Molecular Genetics, The National Medical Research Center for Endocrinology 0 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 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.