ClinVar Miner

Variants studied for Pontocerebellar hypoplasia type 2D

Coded as:
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Gene type:
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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
7 17 88 9 18 132

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SEPSECS 5 15 87 8 18 127
LOC129992330, SEPSECS 1 1 1 1 0 3
CLN5 0 1 0 0 0 1
PCCA 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 51 7 15 73
Natera, Inc. 0 2 24 3 8 37
Fulgent Genetics, Fulgent Genetics 1 5 3 0 0 9
Revvity Omics, Revvity 0 2 3 0 0 5
Baylor Genetics 0 1 3 0 0 4
OMIM 3 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 3
Genome-Nilou Lab 0 0 1 0 2 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
Medical Genetics Laboratory, University of Catania 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 1 0 0 1
New York Genome Center 0 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 1

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