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 affects not provided total
906 235 3240 1478 162 1 26 5490

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Hereditary nonpolyposis colorectal neoplasms 515 57 2145 712 52 0 0 3481
Hereditary cancer-predisposing syndrome 405 75 1851 1028 57 0 0 3300
not provided 230 56 663 309 37 0 2 1226
not specified 6 0 267 437 97 0 21 752
Lynch syndrome 222 54 255 60 51 0 2 625
Hereditary nonpolyposis colorectal cancer type 5 44 30 261 117 27 0 0 453
Carcinoma of colon 44 6 32 27 10 0 0 119
Malignant tumor of breast 3 1 44 17 3 0 0 68
Hereditary nonpolyposis colon cancer 20 28 0 0 0 0 0 48
Endometrial carcinoma 24 3 12 3 1 0 0 43
Endometrial carcinoma; Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 5 4 1 31 0 0 0 0 36
Lynch syndrome I 10 7 10 6 3 0 0 36
Lynch-like syndrome 19 4 9 0 0 0 0 32
none provided 5 0 5 4 8 0 0 22
Hereditary breast and ovarian cancer syndrome 0 0 16 0 0 0 0 16
Turcot syndrome 5 0 1 0 0 0 0 6
Breast carcinoma 0 0 3 1 1 0 0 5
Colorectal cancer 1 0 4 0 0 0 0 5
Neoplasm of ovary 4 1 0 0 0 0 0 5
Mismatch repair cancer syndrome 3 3 0 0 0 0 0 0 3
Breast and/or ovarian cancer 2 0 0 0 0 0 0 2
Colorectal / endometrial cancer 0 0 1 1 0 0 0 2
Colorectal cancer, non-polyposis 0 0 1 1 0 0 0 2
Hereditary nonpolyposis colorectal carcinoma 2 0 0 0 0 0 0 2
Inborn genetic diseases 0 0 2 0 0 0 0 2
B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 0 0 1 0 0 0 0 1
Breast-ovarian cancer, familial 1 0 0 1 0 0 0 0 1
Cerebellar medulloblastoma 0 0 0 0 0 1 0 1
Colon adenocarcinoma 1 0 0 0 0 0 0 1
Colorectal cancer, early onset 0 0 1 0 0 0 0 1
Gaucher disease type I 0 1 0 0 0 0 0 1
Malignant tumor of sigmoid colon 0 0 0 1 0 0 0 1
Ovarian cancer 0 0 1 0 0 0 0 1
Rhabdomyosarcoma (disease) 1 0 0 0 0 0 0 1
See cases 1 0 0 0 0 0 0 1
Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 5 0 0 0 0 0 0 1 1
bilateral breast cancer 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 535 57 2205 802 53 0 0 3652
Ambry Genetics 365 58 1325 623 23 0 0 2394
Color Health, Inc 115 24 1104 712 45 0 0 2000
GeneDx 168 17 478 353 59 0 0 1075
Integrated Genetics/Laboratory Corporation of America 56 52 218 119 47 0 0 492
Quest Diagnostics Nichols Institute San Juan Capistrano 72 13 205 69 27 0 0 381
Department of Pathology and Laboratory Medicine,Sinai Health System 97 11 156 63 21 0 0 348
Counsyl 17 18 174 72 2 0 0 283
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 163 19 2 30 46 0 0 260
Mendelics 4 6 85 43 9 0 0 147
Mayo Clinic Laboratories, Mayo Clinic 34 27 33 17 31 0 0 142
University of Washington Department of Laboratory Medicine, University of Washington 13 7 46 34 1 0 0 101
Illumina Clinical Services Laboratory,Illumina 0 1 70 10 10 0 0 91
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 24 6 39 6 6 0 1 82
PreventionGenetics, PreventionGenetics 0 1 27 31 20 0 0 79
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 16 1 14 14 23 0 0 68
CeGaT Praxis fuer Humangenetik Tuebingen 10 2 29 20 0 0 0 61
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 1 10 4 20 0 0 40
Fulgent Genetics,Fulgent Genetics 4 1 31 0 0 0 0 36
Constitutional Genetics Lab,Leon Berard Cancer Center 19 4 9 0 0 0 0 32
True Health Diagnostics 1 1 7 11 3 0 0 23
GeneKor MSA 4 1 15 2 0 0 0 22
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 5 0 3 1 13 0 0 22
Genetic Services Laboratory, University of Chicago 2 0 9 8 2 0 0 21
ITMI 0 0 0 0 0 0 21 21
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 1 11 5 0 0 0 19
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 0 1 5 9 0 0 19
OMIM 15 0 1 0 0 0 0 16
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 16 0 0 0 0 0 0 16
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 0 12 0 2 0 0 15
CSER _CC_NCGL, University of Washington 1 1 10 3 0 0 0 15
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 0 15 0 0 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 5 1 6 1 1 0 0 14
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 14 0 0 0 0 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 8 2 0 0 0 0 0 10
Pathway Genomics 4 0 2 2 2 0 0 10
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 5 4 0 0 10
Baylor Genetics 2 0 6 0 0 0 0 8
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 5 0 1 0 0 6
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 3 0 3 0 0 0 0 6
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 2 4 0 0 0 0 0 6
Ding PR Lab,Sun Yat-sen University Cancer Center 0 0 6 0 0 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 3 0 1 0 1 0 0 5
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 4 1 0 0 0 0 0 5
Division of Medical Genetics, University of Washington 2 0 3 0 0 0 0 5
Vantari Genetics 1 0 1 0 2 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 2 0 0 0 0 3
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 2 1 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Institute of Human Genetics,University of Wuerzburg 2 0 0 0 0 0 0 2
Center of Medical Genetics and Primary Health Care 0 0 1 0 1 0 0 2
Genetic Laboratory,Instituto Nacional de Cancer 1 0 0 1 0 0 0 2
3DMed Clinical Laboratory Inc 1 0 0 1 0 0 0 2
Gharavi Laboratory,Columbia University 2 0 0 0 0 0 0 2
CZECANCA consortium 2 0 0 0 0 0 0 2
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf 1 1 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 0 1
Division of Human Genetics,Medical University Innsbruck 1 0 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Cancer Genomics Laboratory, Texas Children's Hospital 0 0 0 0 0 1 0 1
Seelig Lab,University of Washington 0 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1
Department of Human Anatomy, Histology and Embryology;Department of Pathology,Peking University Health Science Center 1 0 0 0 0 0 0 1
Liquid Biopsy and Precision Medicine Group,Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 0 0 1 0 0 0 0 1
Genomic Center,National Cancer Institute 1 0 0 0 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 0 1 0 0 0 0 1

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