Variants studied for Van der Woude syndrome 1

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
24	4	43	5	35	7	118

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
IRF6	22	3	43	5	35	7	115
C1orf74, IRF6	1	0	0	0	0	0	1
CACNA1E	1	0	0	0	0	0	1
GRHL3	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	42	5	35	0	82
OMIM	13	0	0	0	0	0	13
GeneReviews	0	0	0	0	0	4	4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	2	2	0	0	0	0	4
Autoinflammatory diseases unit, CHU de Montpellier	2	1	0	0	0	0	3
Iowa Institute Of Oral Health Research, University of Iowa	0	0	0	0	0	3	3
Baylor Genetics	1	0	0	0	0	0	1
Invitae	1	0	0	0	0	0	1
Mendelics	1	0	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	0	1
KK Women’s and Children’s Hospital	1	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Medical Genetics, Necip Fazıl Sehir Hastanesi	1	0	0	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	1	0	0	0	0	0	1
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand	1	0	0	0	0	0	1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics	1	0	0	0	0	0	1

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