ClinVar Miner

Variants in gene MSH6

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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
634 162 2184 1069 146 23 3754

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 302 59 1288 754 54 0 2357
Hereditary nonpolyposis colon cancer 234 20 972 327 44 0 1597
Lynch syndrome 246 56 503 162 50 1 978
not provided 192 55 580 58 34 1 878
not specified 3 0 224 385 92 21 639
Hereditary nonpolyposis colorectal cancer type 5 34 21 188 83 17 0 334
Endometrial carcinoma; Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 5 4 1 31 0 0 0 36
Lynch syndrome I 8 8 5 6 3 0 30
Turcot syndrome 6 0 0 0 0 0 6
Ovarian Neoplasms 4 1 0 0 0 0 5
Colorectal cancer 0 0 4 0 0 0 4
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 0 0 2 0 0 0 2
Colorectal / endometrial cancer 0 0 1 1 0 0 2
Colorectal cancer, non-polyposis 0 0 1 1 0 0 2
Hereditary nonpolyposis colorectal carcinoma 2 0 0 0 0 0 2
Inborn genetic diseases 0 0 2 0 0 0 2
Adenocarcinoma of the colon 1 0 0 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 0 0 1 0 0 0 1
Colorectal cancer, early onset 0 0 1 0 0 0 1
Craniopharyngioma 0 0 1 0 0 0 1
Endometrial carcinoma 1 0 0 0 0 0 1
Ependymoma 0 0 1 0 0 0 1
Gaucher's disease, type 1 0 1 0 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 1
Malignant tumor of sigmoid colon 0 0 0 1 0 0 1
Medulloblastoma, desmoplastic 0 0 1 0 0 0 1
Mixed Phenotype Acute Leukemia with t(v;11q23.3); KMT2A Rearranged 0 0 1 0 0 0 1
Myelodysplastic Syndrome with Single Lineage Dysplasia 0 0 1 0 0 0 1
Ovarian cancer 0 0 1 0 0 0 1
Pilocytic astrocytoma 0 0 1 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 276 23 1148 427 45 0 1919
Ambry Genetics 277 47 926 437 21 0 1708
Color 70 15 699 508 42 0 1334
GeneDx 164 17 478 327 56 0 1042
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 163 19 205 29 46 0 462
Integrated Genetics/Laboratory Corporation of America 38 26 178 29 38 0 309
Counsyl 17 18 174 72 2 0 283
Quest Diagnostics Nichols Institute San Juan Capistrano 44 10 127 38 20 0 233
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 34 27 33 17 31 0 142
Department of Pathology and Laboratory Medicine,Sinai Health System 49 5 26 12 18 0 110
University of Washington Department of Laboratory Medicine,University of Washington 13 4 46 34 1 0 98
PreventionGenetics 0 1 27 31 20 0 79
Mendelics 1 4 70 4 0 0 79
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 15 2 34 6 6 1 64
Illumina Clinical Services Laboratory,Illumina 0 1 29 13 0 0 43
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 1 10 4 20 0 40
Fulgent Genetics 4 1 31 0 0 0 36
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 8 1 4 7 13 0 33
True Health Diagnostics 1 1 7 11 3 0 23
GeneKor MSA 4 1 15 2 0 0 22
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 5 0 3 1 13 0 22
Genetic Services Laboratory, University of Chicago 2 0 12 6 1 0 21
ITMI 0 0 0 0 0 21 21
Center for Human Genetics, Inc 2 1 11 5 0 0 19
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 4 0 1 5 9 0 19
OMIM 15 0 1 0 0 0 16
CSER_CC_NCGL; University of Washington Medical Center 1 1 10 3 0 0 15
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 12 0 2 0 14
Pathway Genomics 4 0 2 2 2 0 10
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 5 4 0 10
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 10 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 2 0 0 9
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 0 1 0 6
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 3 0 3 0 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 3 0 1 0 1 0 5
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 4 1 0 0 0 0 5
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 4 1 0 0 0 0 5
Vantari Genetics 1 0 1 0 2 0 4
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 2 1 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 2 0 0 0 0 0 2
Genetic Laboratory,Instituto Nacional de Cancer 1 0 0 1 0 0 2
3DMed Clinical Laboratory Inc 1 0 0 1 0 0 2
Department of Molecular Diagnostics,Institute of Oncology 0 2 0 0 0 0 2
Gharavi Laboratory,Columbia University 2 0 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 1 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 1 1
Department of Human Anatomy, Histology and Embryology;Department of Pathology,Peking University Health Science Center 1 0 0 0 0 0 1

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