ClinVar Miner

Variants studied for patent ductus arteriosus

Included ClinVar conditions (18):
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 not provided total
21 8 31 3 4 10 68

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TFAP2B 10 4 22 3 4 10 44
PRDM6 3 0 4 0 0 0 7
​intergenic 3 2 0 0 0 0 5
HYDIN 0 1 1 0 0 0 2
ABCC9 1 0 0 0 0 0 1
BMP2 0 0 1 0 0 0 1
DHX15 0 0 1 0 0 0 1
FLNA 0 1 0 0 0 0 1
FLNA, LOC107988032 1 0 0 0 0 0 1
INPP5E 1 0 0 0 0 0 1
PSMC3 1 0 0 0 0 0 1
PTPN11 1 0 0 0 0 0 1
TNFRSF13B 0 0 1 0 0 0 1
VANGL1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 14 3 2 0 18
OMIM 12 0 0 0 0 0 12
GeneReviews 0 0 0 0 0 10 10
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 3 2 0 0 0 0 5
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 3 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
New York Genome Center 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Embryology Laboratory, Victor Chang Cardiac Research Institute 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Cytogenetics- Mohapatra Lab, Banaras Hindu University 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Medical Genetics, American University of Beirut 1 0 0 0 0 0 1
3billion, Medical Genetics 0 0 1 0 0 0 1

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