Variants studied for anterior segment dysgenesis 6

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
31	26	13	1	6	74

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	total
CYP1B1	25	25	13	0	3	64
CYP1B1, LOC128772254	6	1	0	1	3	10

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Baylor Genetics	28	23	1	0	0	52
Fulgent Genetics, Fulgent Genetics	10	3	10	1	1	25
OMIM	6	0	0	0	0	6
Genome-Nilou Lab	0	0	0	0	6	6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	2	0	0	0	0	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research	1	0	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	1
Coban-Akdemir Lab, University of Texas Health Science Center	0	0	1	0	0	1

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