Variants studied for Mismatch repair cancer syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
29	4	15	0	2	2	52

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
PMS2	12	2	6	0	2	22
MLH1	9	0	2	0	0	11
MSH2	2	0	6	2	0	10
MSH6	6	2	1	0	0	9

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
OMIM	11	0	0	0	0	11
Centre for Mendelian Genomics, University Medical Centre Ljubljana	3	0	5	2	0	10
Institute of Human Genetics, University of Leipzig Medical Center	1	2	4	0	0	7
Baylor Genetics	4	0	2	0	0	6
Institute of Human Genetics, Medical University Innsbruck	5	0	0	0	0	5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	1	1	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	2
CSER _CC_NCGL, University of Washington	2	0	0	0	0	2
MGZ Medical Genetics Center	0	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	1	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	1
New York Genome Center	0	0	1	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	1	1

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