ClinVar Miner

Variants in gene DIS3L2

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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
78 47 1291 850 82 2 2266

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Perlman syndrome 77 44 1273 804 58 2 2195
not provided 1 1 30 68 32 0 127
DIS3L2-related condition 0 2 12 40 2 0 56
Inborn genetic diseases 0 0 45 3 0 0 48
not specified 0 0 2 6 8 0 16
Hepatoblastoma 0 0 1 0 0 0 1
Nephroblastoma 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 74 26 1204 789 50 0 2143
Illumina Laboratory Services, Illumina 0 0 74 7 16 0 97
GeneDx 0 1 16 34 30 0 81
PreventionGenetics, part of Exact Sciences 0 2 12 40 5 0 59
Ambry Genetics 0 0 45 3 0 0 48
Sema4, Sema4 0 1 24 22 1 0 48
CeGaT Center for Human Genetics Tuebingen 0 0 0 32 1 0 33
Baylor Genetics 1 15 16 0 0 0 32
Fulgent Genetics, Fulgent Genetics 0 0 19 1 1 0 21
Revvity Omics, Revvity 0 0 10 0 0 0 10
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 8 1 1 0 10
Genetic Services Laboratory, University of Chicago 0 0 2 6 1 0 9
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 4 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 3 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 1 0 0 4
OMIM 3 0 0 0 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 1

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