ClinVar Miner

Variants studied for van der Woude syndrome 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
60 21 90 19 39 7 232

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 58 20 89 19 39 7 228
GRHL3 0 1 1 0 0 0 2
C1orf74, IRF6 1 0 0 0 0 0 1
CACNA1E 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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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
Illumina Laboratory Services, Illumina 0 0 42 5 35 0 82
OMIM 13 0 0 0 0 0 13
Faculty of Pharmacy, University of Ljubljana 2 2 1 0 0 0 5
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
Mendelics 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 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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