Variants studied for Juvenile polyposis/hereditary hemorrhagic telangiectasia 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	total
48	23	284	131	36	493

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SMAD4	48	23	284	131	36	493

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
All of Us Research Program, National Institutes of Health	2	0	113	108	0	223
Illumina Laboratory Services, Illumina	0	0	127	18	27	172
Myriad Genetics, Inc.	37	12	15	8	8	80
Baylor Genetics	1	6	61	0	0	68
OMIM	7	0	0	0	0	7
NIHR Bioresource Rare Diseases, University of Cambridge	2	2	0	1	0	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	2	0	0	3
Solve-RD Consortium	0	3	0	0	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	0	1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	1	0	0	0	0	1
University of Washington Department of Laboratory Medicine, University of Washington	0	0	0	0	1	1
deCODE genetics, Amgen	0	1	0	0	0	1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	1	0	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	1

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