Variants studied for Juvenile polyposis 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
306	80	1399	1121	47	1	2934

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
BMPR1A	164	41	813	552	30	1	1584
SMAD4	139	37	586	569	17	0	1345
ADIRF, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG	2	0	0	0	0	0	2
BMPR1A, LOC130004245	0	2	0	0	0	0	2
BMPR1A, LDB3, MMRN2, SNCG	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
Invitae	259	58	1391	1115	38	0	2861
Myriad Genetics, Inc.	54	14	18	9	6	0	101
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	0	0	5	15	0	20
OMIM	13	0	0	0	0	0	13
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	4	0	0	0	0	6
MGZ Medical Genetics Center	0	2	3	0	0	0	5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	3	0	0	0	3
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	0	1
deCODE genetics, Amgen	0	1	0	0	0	0	1
3billion	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
DASA	1	0	0	0	0	0	1
Human Genetics Bochum, Ruhr University Bochum	1	0	0	0	0	0	1
Laboratory of Molecular and Cellular Biology, University of Science and Technology Houari Boumediene	1	0	0	0	0	0	1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria	0	1	0	0	0	0	1

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