ClinVar Miner

Variants in gene combination LOC129933707, MSH6

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Minimum submission review status: Collection method:
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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 total
7 9 37 51 15 95

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary nonpolyposis colorectal neoplasms 3 3 22 32 4 64
Hereditary cancer-predisposing syndrome 2 4 21 32 1 57
Lynch syndrome 5 2 5 3 11 11 28
not provided 2 3 11 4 2 20
Lynch syndrome 1 3 8 5 1 18
not specified 0 0 5 7 2 13
Endometrial carcinoma 0 0 4 0 0 4
Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3 0 0 1 1 0 2
Familial cancer of breast 0 0 0 1 0 1
Hereditary cancer 0 0 0 1 0 1
Malignant tumor of breast 0 0 1 0 0 1
Mismatch repair cancer syndrome 3 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 3 22 32 4 64
Ambry Genetics 2 4 18 13 0 37
Color Diagnostics, LLC DBA Color Health 1 1 6 25 1 34
Myriad Genetics, Inc. 2 4 1 8 10 25
GeneDx 2 1 8 5 3 19
All of Us Research Program, National Institutes of Health 1 0 8 4 0 13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 6 4 0 10
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 5 3 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 4 3 0 8
Counsyl 0 1 1 3 0 5
Baylor Genetics 0 0 4 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 0 1 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 2
Mendelics 0 0 1 1 0 2
Sema4, Sema4 0 0 1 1 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 2 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 1
PreventionGenetics, part of Exact Sciences 0 0 0 1 0 1
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 0 1 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 1 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 1 1

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