ClinVar Miner

Variants in gene TP63

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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 total
52 16 56 34 21 175

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
TP63-Related Spectrum Disorders 13 2 39 30 9 92
Cleft Lip +/- Cleft Palate, Autosomal Dominant 0 0 26 30 8 64
Ectrodactyly 0 0 26 30 8 64
not provided 15 11 13 1 1 41
not specified 0 0 0 5 12 17
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12 2 0 0 0 14
ADULT syndrome 10 0 0 0 0 10
Rapp-Hodgkin ectodermal dysplasia syndrome 7 0 0 0 0 7
Hay-Wells syndrome of ectodermal dysplasia 3 0 0 0 0 3
Orofacial cleft 8 2 0 1 0 0 3
Split-hand/foot malformation 4 3 0 0 0 0 3
Inborn genetic diseases 0 1 1 0 0 2
Limb-mammary syndrome 2 0 0 0 0 2
Premature ovarian insufficiency 2 0 0 0 0 2
Ankyloblepharon-ectodermal defects, cleft lip/palate 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 1
Muscular dystrophy 0 0 1 0 0 1
See cases 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 27 30 8 65
OMIM 29 0 0 0 0 29
GeneDx 14 10 3 2 0 29
Invitae 13 2 13 0 1 29
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 9 1 2 14
PreventionGenetics 0 0 0 3 10 13
GeneReviews 7 0 0 0 0 7
Ambry Genetics 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 2
Molecular Development Laboratory,Murdoch Childrens Research Institute 2 0 0 0 0 2
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 1
ISCA site 6 0 0 0 0 1 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 1 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 1 0 0 0 0 1

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