Variants studied for Shwachman-Diamond syndrome 2

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
10	1	9	1	4	2	23

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
EFL1	10	1	9	1	4	2	23

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
OMIM	10	0	0	0	0	0	10
Genome-Nilou Lab	0	0	0	0	4	0	4
Baylor Genetics	0	0	3	0	0	0	3
Undiagnosed Diseases Network, NIH	0	1	2	0	0	0	3
GeneReviews	0	0	0	0	0	2	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	0	1
SIB Swiss Institute of Bioinformatics	0	0	1	0	0	0	1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	1	0	0	0	1
3billion	0	0	1	0	0	0	1

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