Variants studied for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

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	not provided	total
42	27	375	320	25	1	785

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
PARN	42	27	375	320	25	1	785

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	38	21	367	320	25	0	771
Fulgent Genetics, Fulgent Genetics	0	1	25	0	0	0	26
Johns Hopkins Genomics, Johns Hopkins University	0	1	4	0	0	0	5
Godley laboratory, The University of Chicago	2	2	1	0	0	0	5
OMIM	4	0	0	0	0	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	1	0	0	0	3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	2	0	0	0	3
Genetics and Molecular Pathology, SA Pathology	0	0	2	0	0	0	2
Undiagnosed Diseases Network, NIH	0	1	0	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	1	0	0	0	0	1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital	0	0	1	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1

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