Variants studied for colobomatous microphthalmia-rhizomelic dysplasia syndrome

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
7	5	4	0	0	12

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
LRBA, MAB21L2	7	5	4	12

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	5	0	0	5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	4	0	4
Genetics Department, University Hospital of Toulouse	0	1	1	2
Baylor Genetics	0	0	1	1
Centogene AG - the Rare Disease Company	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	1
Daryl Scott Lab, Baylor College of Medicine	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	1
Clinical Genomics Laboratory, Stanford Medicine	0	0	1	1

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