ClinVar Miner

Variants in gene HTRA1

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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 risk factor not provided total
30 26 175 92 30 1 11 319

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 14 14 120 82 30 0 2 245
Macular degeneration 0 0 23 5 5 0 0 33
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 10 9 10 0 3 0 0 32
Inborn genetic diseases 0 0 26 1 0 0 0 27
CARASIL syndrome 10 4 4 0 3 0 8 23
HTRA1-related disorder 0 1 10 9 0 0 0 20
not specified 0 0 10 2 6 0 0 18
CARASIL syndrome; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 0 4 0 0 0 1 5
HTRA1-related cerebral small vessel disease 2 2 0 0 0 0 0 4
Age related macular degeneration 7 2 0 0 0 0 1 0 3
Vascular dementia 0 0 2 0 0 0 0 2
CARASIL syndrome; Age related macular degeneration 7; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 0 1 0 0 0 0 1
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 0 0 1 0 0 0 0 1
HTRA1-related autosomal dominant cerebral small vessel disease 1 0 0 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1
Seizure; Cognitive impairment; Personality changes 0 1 0 0 0 0 0 1
Small vessel cerebrovascular disease 0 1 0 0 0 0 0 1
Susceptibility to neovascular type of age-related macular degeneration 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 12 5 85 73 15 0 0 190
GeneDx 2 6 13 0 19 0 0 40
CeGaT Center for Human Genetics Tuebingen 4 3 19 11 0 0 0 37
Illumina Laboratory Services, Illumina 0 1 23 5 5 0 0 34
Ambry Genetics 0 0 26 1 0 0 0 27
Athena Diagnostics 0 0 13 1 6 0 0 20
PreventionGenetics, part of Exact Sciences 0 1 10 9 0 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 8 1 0 0 0 13
OMIM 11 0 0 0 0 1 0 12
Breakthrough Genomics, Breakthrough Genomics 0 0 1 2 9 0 0 12
GeneReviews 1 0 0 0 0 0 8 9
Revvity Omics, Revvity 0 2 5 0 0 0 0 7
Taipei Veterans General Hospital, Neurological Institute 3 4 0 0 0 0 0 7
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 3 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 1 4 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 3 0 1 0 0 0 0 4
3billion 2 1 1 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 2 2
Myllykangas group, University of Helsinki 0 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 0 1
Department of Clinical Laboratory, Peking University People's Hospital 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
GenomeConnect - CureCADASIL 0 0 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Clinical Genetics Service, Universitary Hospital 12 de Octubre 0 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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