ClinVar Miner

Variants studied for Pyknodysostosis

Coded as:
Minimum submission review status: Collection method:
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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
25 68 35 8 3 126

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CTSK 25 68 35 8 3 126

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 0 30 6 0 0 36
Baylor Genetics 13 18 0 0 0 31
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
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 0 0 0 2
Revvity Omics, Revvity 1 0 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

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