ClinVar Miner

Variants studied for Microcephalic osteodysplastic primordial dwarfism type II

Coded as:
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
38 12 311 42 100 1 491

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 not provided total
PCNT 38 12 311 42 100 1 491

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 257 32 94 0 383
Genetic Services Laboratory,University of Chicago 17 2 47 0 0 0 66
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 5 17 0 22
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 5 15 0 20
Fulgent Genetics,Fulgent Genetics 0 0 18 0 0 0 18
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 7 9 0 17
OMIM 12 0 0 0 0 0 12
Service de Génétique Moléculaire,Hôpital Robert Debré 0 3 0 1 0 0 4
Functional Genomics Laboratory, Institute of Genome Research 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 1 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
The Genetics Institute,Rambam Health Care Campus 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 0 0 0 0 1

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