Variants studied for autosomal dominant popliteal pterygium 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	not provided	total
51	16	52	16	13	3	149

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
IRF6	51	16	50	16	12	3	146
RIPK4	0	0	2	0	1	0	3

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	44	16	46	15	11	0	132
OMIM	8	0	0	0	0	0	8
Illumina Laboratory Services, Illumina	0	0	5	1	2	0	8
Genome-Nilou Lab	0	0	0	0	3	0	3
GeneReviews	0	0	0	0	0	2	2
Fulgent Genetics, Fulgent Genetics	1	0	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	0	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	1	0	0	0	0	0	1
Iowa Institute Of Oral Health Research, University of Iowa	0	0	0	0	0	1	1

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