ClinVar Miner

Variants studied for Lynch syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
1472 411 2512 1111 221 12 5571

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH6 259 101 973 449 52 5 1780
MSH2 525 114 651 248 57 4 1560
MLH1 548 128 413 192 58 0 1296
PMS2 121 67 436 202 41 3 843
EPCAM 4 0 17 4 0 0 25
LOC129933707, MSH6 1 3 8 5 1 0 18
MLH3 0 0 6 1 0 0 7
EIF2B2, MLH3 0 0 0 6 0 0 6
FBXO11, MSH6 1 0 0 1 2 0 4
LOC129933695, MSH2 4 0 0 0 0 0 4
LOC129933706, MSH6 0 0 1 1 3 0 4
AIMP2, PMS2 0 0 0 0 3 0 3
EPCAM, MIR559 1 0 2 0 0 0 3
LOC129997916, PMS2 2 0 1 0 0 0 3
LOC129933705, LOC129933706, LOC129933707, LOC129933708, MSH6 2 0 0 0 0 0 2
LOC129933706, LOC129933707, LOC129933708, MSH6 1 0 1 0 0 0 2
RPS20 0 0 0 0 2 0 2
EPCAM, STPG4 0 0 0 1 0 0 1
EPM2AIP1, LOC115995508, LOC129936464, LOC129936465, LOC129936466, LOC129936467, LOC129936468, LOC129936469, LOC129936470, LOC129936471, MLH1, TRANK1 1 0 0 0 0 0 1
EPM2AIP1, MLH1 0 0 0 0 1 0 1
FBXO11, LOC129933706, LOC129933707, LOC129933708, MSH6 1 0 0 0 0 0 1
LOC129933706, LOC129933707, MSH6 0 0 1 0 0 0 1
LOC129933707, LOC129933708, MSH6 1 0 0 0 0 0 1
LOC129936471, MLH1 1 0 0 0 0 0 1
LRRFIP2, MLH1 0 0 0 0 1 0 1
ORMDL1, PMS1 0 0 0 1 0 0 1
PMS1 0 0 1 0 0 0 1
TGFBR2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
All of Us Research Program, National Institutes of Health 187 47 2157 933 33 0 3357
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 1160 173 23 89 173 0 1618
Department of Pathology and Laboratory Medicine, Sinai Health System 83 9 177 89 10 0 367
University of Washington Department of Laboratory Medicine, University of Washington 53 27 125 41 6 0 252
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 112 82 1 0 0 1 196
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 74 65 5 2 47 0 193
Labcorp Genetics (formerly Invitae), Labcorp 88 8 42 6 0 0 144
Mendelics 12 1 87 0 0 0 100
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 22 21 3 3 0 0 49
Illumina Laboratory Services, Illumina 0 0 31 14 0 0 45
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 26 1 5 0 0 0 32
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 16 2 13 0 31
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 26 3 1 0 31
CSER _CC_NCGL, University of Washington 1 3 8 3 1 0 16
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 6 7 0 0 0 0 13
Genetics and Molecular Pathology, SA Pathology 5 5 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 10 10
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University, Chulalongkorn University 0 0 4 0 0 0 4
GeneID Lab - Advanced Molecular Diagnostics 0 2 1 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 0 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 1 0 0 0 0 2
Service de Génétique Médicale, Institut Central des Hôpitaux 0 0 2 0 0 0 2
DASA 2 0 0 0 0 0 2
Diagnostic Molecular Genetics Laboratory, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 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 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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