Variants studied for Congenital heart defects and ectodermal dysplasia

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
2	3	21	3	5	34

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PRKD1	2	3	20	3	5	33
intergenic	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Baylor Genetics	0	0	5	0	0	5
Revvity Omics, Revvity	0	0	4	0	0	4
Genome-Nilou Lab	0	0	0	0	4	4
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	3	0	0	3
OMIM	2	0	0	0	0	2
Institute of Human Genetics, University of Goettingen	0	1	1	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	2	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	1	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	1	2
New York Genome Center	0	0	2	0	0	2
Mendelics	0	1	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1

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