Variants studied for chronic pulmonary 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
117	11	36	177	45	385

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
BMPR2	111	10	34	177	44	376
ATP13A3	5	1	1	0	0	6
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
ALS2, BMPR2, CDK15, FZD7, NOP58, SUMO1	1	0	0	0	0	1
BMPR2, LOC129935434	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	112	10	35	177	45	379
OMIM	5	0	0	0	0	5
Johns Hopkins Genomics, Johns Hopkins University	1	1	0	0	0	2
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

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