Variants studied for 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
62	21	134	35	44	3	295

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
IRF6	56	20	55	18	13	3	162
RIPK4	5	1	79	17	31	0	132
CHUK	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	48	17	49	17	12	0	143
Illumina Laboratory Services, Illumina	0	0	78	17	30	0	125
OMIM	14	0	0	0	0	0	14
Genome-Nilou Lab	0	0	0	0	14	0	14
Fulgent Genetics, Fulgent Genetics	1	2	1	1	0	0	5
Baylor Genetics	0	0	3	0	0	0	3
Juno Genomics, Hangzhou Juno Genomics, Inc	1	1	1	0	0	0	3
GeneReviews	0	0	0	0	0	2	2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	0	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	1	0	0	0	0	0	1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	0	0	1	0	0	0	1
Iowa Institute Of Oral Health Research, University of Iowa	0	0	0	0	0	1	1

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