ClinVar Miner

Variants in gene combination DHFR, MSH3

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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 total
31 21 299 175 34 515

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 19 6 228 124 27 389
Hereditary cancer-predisposing syndrome 10 9 166 96 13 289
not specified 0 0 12 38 17 57
Endometrial carcinoma 0 14 32 0 1 47
Familial adenomatous polyposis 4 8 0 2 1 2 13
MSH3-related condition 0 0 7 4 0 11
Constitutional megaloblastic anemia with severe neurologic disease 0 0 0 0 9 9
Inborn genetic diseases 0 0 2 0 1 3
Cavernous sinus meningioma 0 0 1 0 0 1
Gastrointestinal stromal tumor 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 19 5 218 112 19 373
Ambry Genetics 10 8 159 88 5 270
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 9 38 5 53
Baylor Genetics 0 14 32 0 0 46
Sema4, Sema4 0 1 15 16 12 44
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 14 7 16 37
GeneDx 0 1 6 11 13 31
PreventionGenetics, part of Exact Sciences 0 0 7 4 0 11
Myriad Genetics, Inc. 8 0 0 0 2 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 9 9
Clinical Genetics, Academic Medical Center 0 0 0 0 7 7
CeGaT Center for Human Genetics Tuebingen 0 0 1 5 1 7
Genetic Services Laboratory, University of Chicago 0 0 1 0 3 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 3 1 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 2 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 4 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 2 3
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 0 3 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 1
Mendelics 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Department of Pharmacy and Biotechnology, University of Bologna 0 0 1 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1

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