ClinVar Miner

Variants in gene ASPH

See also:
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
18 12 72 53 62 203

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 5 4 18 39 59 122
Inborn genetic diseases 0 0 53 5 0 58
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 10 7 5 0 10 29
ASPH-related disorder 0 0 0 12 2 14
not specified 0 0 1 0 5 6
Exercise-induced malignant hyperthermia 2 0 0 0 0 2
Malignant hyperthermia of anesthesia 2 0 0 0 0 2
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 1
Thoracic aortic aneurysm or dissection 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 2 13 27 16 61
Ambry Genetics 0 0 53 5 0 58
GeneDx 1 2 2 3 47 55
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 32 36
PreventionGenetics, part of Exact Sciences 0 0 0 12 2 14
Genome-Nilou Lab 0 0 0 0 10 10
Clinical Genetics, Academic Medical Center 0 0 0 3 4 7
CeGaT Center for Human Genetics Tuebingen 0 0 2 4 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 1 6
OMIM 5 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 3 0 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 4
James Dowling Lab, The Hospital For Sick Children 4 0 0 0 0 4
Centogene AG - the Rare Disease Company 0 0 2 0 0 2
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Bionano Laboratories 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
3billion 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
Clinical Genetics Department, Nottingham University Hospitals NHS Trust 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 1
NHS Central & South Genomic Laboratory Hub 0 1 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.