Variants studied for surfactant metabolism dysfunction, pulmonary, 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
18	4	143	136	24	1	325

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CSF2RA	17	4	143	136	24	1	324
CSF2RA, MIR3690	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	14	4	141	136	23	0	318
Mendelics	5	0	0	0	0	0	5
Johns Hopkins Genomics, Johns Hopkins University	0	0	2	0	1	0	3
OMIM	2	0	0	0	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	0	0	1	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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