ClinVar Miner

Variants studied for pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
13 2 10 3 0 3 1 31

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 uncertain risk allele not provided total
GATA6 13 2 10 3 3 1 31

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign uncertain risk allele not provided total
OMIM 9 0 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 5 3 0 0 8
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 1 0 3 0 4
Baylor Genetics 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 1 0 0 0 0 0 1

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