ClinVar Miner

Variants in gene 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 not provided total
353 175 2166 1261 99 6 3821

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 253 73 1812 1077 95 0 3252
Hereditary cancer-predisposing syndrome 128 32 1135 456 5 0 1733
Endometrial carcinoma 7 92 204 0 0 0 303
Familial adenomatous polyposis 4 186 51 28 0 0 3 264
not specified 0 0 52 93 12 0 150
MSH3-related condition 0 3 28 35 2 0 68
Endometrial carcinoma; Familial adenomatous polyposis 4 0 0 2 2 0 1 5
Inborn genetic diseases 0 0 4 0 0 0 4
MSH3-related attenuated familial adenomatous polyposis 0 0 1 0 0 2 3
Diffuse midline glioma, H3 K27-altered 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 253 57 1773 1059 35 0 3177
Ambry Genetics 128 26 1104 454 5 0 1717
Baylor Genetics 7 92 204 0 0 0 303
Myriad Genetics, Inc. 184 47 0 0 0 0 231
GeneDx 1 8 101 6 65 0 181
Sema4, Sema4 0 8 125 38 3 0 174
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 2 46 90 4 0 142
Quest Diagnostics Nichols Institute San Juan Capistrano 1 4 71 25 14 0 115
PreventionGenetics, part of Exact Sciences 0 3 28 35 2 0 68
CeGaT Center for Human Genetics Tuebingen 3 3 3 19 1 0 29
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 20 0 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 7 4 7 0 20
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 13 1 0 0 16
Genetic Services Laboratory, University of Chicago 0 0 5 4 2 0 11
OMIM 4 0 0 0 0 0 4
MGZ Medical Genetics Center 1 1 2 0 0 0 4
Mendelics 0 1 3 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 1 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Oncological Genetic Counseling Clinic, "Carlo Poma" Hospital 0 0 1 0 0 0 1

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