Variants studied for Muir-Torre syndrome

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	16	83	22	4	2	155

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
MLH1	15	11	43	11	2	1	83
MSH2	13	5	40	11	2	1	71
LRRFIP2, MLH1	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	15	10	74	22	4	0	125
OMIM	4	0	0	0	0	0	4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	4	0	0	0	4
Baylor Genetics	1	0	2	0	0	0	3
Mendelics	3	0	0	0	0	0	3
Genetics and Molecular Pathology, SA Pathology	0	1	2	0	0	0	3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	1	2	0	0	0	0	3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	2	1	0	0	0	0	3
MGZ Medical Genetics Center	1	0	1	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
Institute of Human Genetics, University of Goettingen	1	0	0	0	0	0	1
Centogene AG - the Rare Disease Company	0	1	0	0	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	1	0	0	0	0	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	1	0	0	0	0	0	1

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