Variants studied for Pancreatic hypoplasia-diabetes-congenital heart disease 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	uncertain risk allele	not provided	total
14	4	4	0	0	3	1	25

Gene and significance breakdown #

Total genes and gene combinations: 2

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	uncertain risk allele	not provided	total
GATA6	14	3	4	3	1	24
ACADVL, DLG4	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 17

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	uncertain risk allele	not provided	total
OMIM	9	0	0	0	0	9
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	0	1	3	0	4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	2	0	0	3
Baylor Genetics	2	0	0	0	0	2
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	1
Laboratory of Human Genetics, Universidade de São Paulo	1	0	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	0	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	1	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	0	1	0	0	1
Genomics, Clalit Research Institute, Clalit Health Care	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1
Prenatal Diagnosis Center, Inner Mongolia Medical University	1	0	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.