ClinVar Miner

Variants in gene RNASEH2A

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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
20 26 177 222 23 8 447

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Aicardi-Goutieres syndrome 4 20 22 165 219 13 8 423
not provided 4 4 15 5 16 0 42
Inborn genetic diseases 1 1 24 1 0 0 27
RNASEH2A-related disorder 1 4 2 8 0 0 15
not specified 0 0 6 1 7 0 14
Aicardi Goutieres syndrome 2 3 0 0 0 0 5
RNASEH2A-related type 1 interferonopathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 17 7 148 217 12 0 401
Ambry Genetics 1 1 24 1 0 0 27
Illumina Laboratory Services, Illumina 0 0 18 2 7 0 27
GeneDx 3 2 7 0 14 0 26
PreventionGenetics, part of Exact Sciences 1 4 2 8 3 0 18
Fulgent Genetics, Fulgent Genetics 1 8 9 0 0 0 18
Breakthrough Genomics, Breakthrough Genomics 0 0 1 1 12 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 3 6 1 0 0 12
GeneReviews 0 0 0 0 0 8 8
Athena Diagnostics 0 0 3 0 3 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 4 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 3 0 0 5
CeGaT Center for Human Genetics Tuebingen 0 0 1 3 0 0 4
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 4 0 4
3billion 0 2 2 0 0 0 4
OMIM 3 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Mendelics 0 1 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1

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