Variants studied for Congenital heart disease

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
30	2	28	3	10	65

Gene and significance breakdown #

Total genes and gene combinations: 21

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GATA4	22	0	0	1	8	23
NKX2-5	4	0	2	1	1	8
DCHS1	0	0	7	0	0	7
CTNNA3	0	0	5	1	0	6
ACVR1	0	0	2	0	0	2
DNAH9	2	0	0	0	0	2
MYL2	2	0	0	0	0	2
RECQL4	0	2	0	0	0	2
COL1A1	0	0	1	0	0	1
CRELD1	0	0	1	0	0	1
DTNA	0	0	1	0	0	1
FOXP1	0	0	1	0	0	1
KLF13	0	0	1	0	0	1
LOC130057889, MESP1	0	0	1	0	0	1
LRP2	0	0	1	0	0	1
LTBP1	0	0	1	0	0	1
PTCH1	0	0	1	0	0	1
RBFOX2	0	0	1	0	0	1
SCN5A	0	0	0	0	1	1
USP43	0	0	1	0	0	1
WDR5	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Department of Pathology and Laboratory Medicine, Sinai Health System	0	2	19	1	1	23
Cytogenetics- Mohapatra Lab, Banaras Hindu University	12	0	2	0	0	14
Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research	14	0	0	0	0	14
Reproductive Health Research and Development, BGI Genomics	0	0	0	0	8	8
New York Genome Center	0	0	4	0	0	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	0	1	1	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	1	0	2
Hongyan Wang Laboratory, Fudan University	2	0	0	0	0	2
Istanbul Faculty of Medicine, Istanbul University	2	0	0	0	0	2
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	1
CSER _CC_NCGL, University of Washington	0	0	1	0	0	1

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