Variants studied for brachydactyly-arterial hypertension 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
7	1	3	1	4	16

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
PDE3A	7	1	2	1	4	15
LOC124625920, PDE3A	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OMIM	6	0	0	0	0	6
Genome-Nilou Lab	0	0	0	0	4	4
Revvity Omics, Revvity	0	0	2	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1
Nowon Eulji Medical Center, Nowon Eulji Medical Center	0	1	0	0	0	1
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology	1	0	0	0	0	1

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