ClinVar Miner

Variants studied for mismatch repair cancer syndrome 1

Included ClinVar conditions (9):
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
50 14 130 12 4 21 230

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MLH1 18 8 42 11 2 5 85
PMS2 16 3 33 1 0 7 60
MSH6 7 3 32 0 0 6 48
MSH2 9 0 23 0 2 3 37

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 21 9 112 12 2 0 156
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 18 18
OMIM 11 0 0 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 5 0 2 0 10
Institute of Human Genetics, University of Leipzig Medical Center 1 2 4 0 0 0 7
Baylor Genetics 4 0 2 0 0 0 6
Institute of Human Genetics, Medical University Innsbruck 5 0 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
CSER _CC_NCGL, University of Washington 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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