Variants studied for congestive heart failure

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
113	12	38	187	55	404

Gene and significance breakdown #

Total genes and gene combinations: 23

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
BMPR2	107	9	32	177	44	369
ATP13A3	5	1	1	0	0	6
TTN	0	0	0	4	2	6
ABCC8	0	2	0	0	0	2
ANK2	0	0	0	2	0	2
MYL2	0	0	0	0	2	2
ABI2, ACADL, ADAM23, BMPR2, C2orf80, CARF, CCNYL1, CD28, CMKLR2, CPO, CPS1, CREB1, CRYGA, CRYGB, CRYGC, CRYGD, CTLA4, CYP20A1, DYTN, EEF1B2, FAM117B, FASTKD2, FZD5, ICA1L, ICOS, IDH1, INO80D, KANSL1L, KLF7, LANCL1, MAP2, MDH1B, METTL21A, MYL1, NBEAL1, NDUFS1, NRP2, PARD3B, PIKFYVE, PLEKHM3, PTH2R, RAPH1, RPE, UNC80, WDR12, ZDBF2	0	0	1	0	0	1
ACTN2	0	0	0	1	0	1
ALS2, BMPR2, CDK15, FZD7, NOP58, SUMO1	1	0	0	0	0	1
ANKRD1	0	0	0	0	1	1
BMPR2, LOC129935434	0	0	0	0	1	1
CACNA1C	0	0	0	1	0	1
CRYAB	0	0	0	1	0	1
DSG2	0	0	0	0	1	1
DSP	0	0	0	0	1	1
DTNA	0	0	0	0	1	1
EYA4	0	0	0	1	0	1
HCN4	0	0	0	0	1	1
LOC114827850, MYL2	0	0	0	0	1	1
MYH6	0	0	1	0	0	1
PRKAG2	0	0	1	0	0	1
RYR2	0	0	1	0	0	1
VCL	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 9

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	108	9	33	177	45	372
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	0	0	3	10	7	20
OMIM	5	0	0	0	0	5
Cohesion Phenomics	0	0	0	0	3	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	2	0	0	0	2
Johns Hopkins Genomics, Johns Hopkins University	1	1	0	0	0	2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1
Rare Disease Genomics Group, St George's University of London	0	0	0	0	1	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.