Variants studied for Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

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
5	6	11	0	0	22

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
MARS1	5	4	11	20
FARSB	0	2	0	2

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	5	0	0	5
Johns Hopkins Genomics, Johns Hopkins University	0	0	3	3
Neuberg Centre For Genomic Medicine, NCGM	0	0	3	3
Baylor Genetics	0	0	2	2
Mendelics	0	0	2	2
Hadassah Hebrew University Medical Center	0	2	0	2
Antonellis Laboratory at Michigan, University of Michigan	0	2	0	2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital	0	2	0	2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	0	1	1

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