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
772 192 2608 1287 156 1 25 4581

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Hereditary cancer-predisposing syndrome 380 75 1623 884 54 0 0 2913
Hereditary nonpolyposis colon cancer 372 42 1536 458 50 0 0 2458
not provided 204 55 593 272 37 0 2 1111
not specified 6 0 209 408 94 0 21 661
Lynch syndrome 243 59 253 59 50 0 1 646
Hereditary nonpolyposis colorectal cancer type 5 39 25 254 117 27 0 0 436
Endometrial carcinoma; Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 5 4 1 31 0 0 0 0 36
Lynch syndrome I 7 7 10 6 3 0 0 33
Hereditary breast and ovarian cancer syndrome 0 0 15 0 0 0 0 15
Turcot syndrome 6 0 0 0 0 0 0 6
Ovarian Neoplasms 4 1 0 0 0 0 0 5
Colorectal cancer 0 0 4 0 0 0 0 4
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 0 0 2 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
Craniopharyngioma 0 0 1 0 0 0 0 1
Endometrial carcinoma 1 0 0 0 0 0 0 1
Ependymoma 0 0 1 0 0 0 0 1
Gaucher's disease, type 1 0 1 0 0 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 0 1
Malignant tumor of sigmoid colon 0 0 0 1 0 0 0 1
Medulloblastoma, desmoplastic 0 0 1 0 0 0 0 1
Mixed Phenotype Acute Leukemia with t(v;11q23.3); KMT2A Rearranged 0 0 1 0 0 0 0 1
Myelodysplastic Syndrome with Single Lineage Dysplasia 0 0 1 0 0 0 0 1
Ovarian cancer 0 0 1 0 0 0 0 1
Pilocytic astrocytoma 0 0 1 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: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Invitae 401 42 1647 642 52 0 0 2784
Ambry Genetics 359 64 1341 607 23 0 0 2394
Color 70 15 699 508 42 0 0 1334
GeneDx 168 17 478 353 59 0 0 1075
Quest Diagnostics Nichols Institute San Juan Capistrano 62 11 173 45 27 0 0 313
Integrated Genetics/Laboratory Corporation of America 38 26 139 69 38 0 0 310
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 86 43 9 0 0 147
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 34 27 33 17 31 0 0 142
Department of Pathology and Laboratory Medicine,Sinai Health System 49 5 26 12 18 0 0 110
University of Washington Department of Laboratory Medicine, University of Washington 13 4 46 34 1 0 0 98
Illumina Clinical Services Laboratory,Illumina 0 1 70 10 10 0 0 91
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 23 5 39 6 6 0 1 80
PreventionGenetics,PreventionGenetics 0 1 27 31 20 0 0 79
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 11 1 9 10 23 0 0 54
CeGaT Praxis fuer Humangenetik Tuebingen 7 2 23 10 0 0 0 42
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
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 12 6 1 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
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
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
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 10 0 0 0 0 10
Division of Genomic Diagnostics,The 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
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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 4 1 0 0 0 0 0 5
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 4 1 0 0 0 0 0 5
Vantari Genetics 1 0 1 0 2 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 0 3
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 2 1 0 0 0 3
Department of Molecular Diagnostics,Institute of Oncology 0 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 2 0 0 0 0 0 0 2
Genetic Laboratory,Instituto Nacional de Cancer 1 0 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 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
Institute of Human Genetics,University of Goettingen 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
Center of Medical Genetics and Primary Health Care 0 0 1 0 0 0 0 1
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 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
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
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

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