Variants studied for pneumothorax

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
20	6	124	38	25	212

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
FLCN	20	5	123	38	25	210
intergenic	0	0	1	0	0	1
COL5A1	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	8	4	70	26	2	110
Illumina Laboratory Services, Illumina	0	0	54	12	23	89
OMIM	7	0	0	0	0	7
Baylor Genetics	1	0	2	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	1	0	0	0	3
Genetics and Molecular Pathology, SA Pathology	1	0	0	1	0	2
Juno Genomics, Hangzhou Juno Genomics, Inc	2	0	0	0	0	2
Johns Hopkins Genomics, Johns Hopkins University	0	0	2	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
MGZ Medical Genetics Center	0	0	1	0	0	1
CSER _CC_NCGL, University of Washington	1	0	0	0	0	1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	1
DASA	1	0	0	0	0	1

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