ClinVar Miner

Variants in gene CDH3

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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 not provided total
33 23 401 304 56 1 766

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 28 17 326 287 52 1 692
EEM syndrome 2 1 89 7 22 0 121
Inborn genetic diseases 0 0 29 2 0 0 31
CDH3-related condition 0 1 1 21 2 0 25
Congenital hypotrichosis with juvenile macular dystrophy 8 1 1 0 9 0 19
not specified 0 0 1 3 5 0 9
EEM syndrome; Congenital hypotrichosis with juvenile macular dystrophy 0 0 3 0 0 0 3
Hypotrichosis with juvenile macular dystrophy 2 1 0 0 0 0 3
Retinal dystrophy 1 0 1 0 0 0 2
Retinitis pigmentosa 0 2 0 0 0 0 2
Hypotrichosis simplex 1 0 0 0 0 0 1
Macular dystrophy 1 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 17 307 264 28 0 641
Illumina Laboratory Services, Illumina 0 0 87 7 18 0 112
GeneDx 0 0 13 23 35 0 71
Ambry Genetics 0 0 29 2 0 0 31
Eurofins Ntd Llc (ga) 2 0 22 3 3 0 30
PreventionGenetics, part of Exact Sciences 0 1 1 21 2 0 25
CeGaT Center for Human Genetics Tuebingen 0 0 4 4 1 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
Clinical Genetics, Academic Medical Center 0 0 0 4 1 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 1 0 5
OMIM 4 0 0 0 0 0 4
Sharon lab, Hadassah-Hebrew University Medical Center 2 2 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 3
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 3 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Revvity Omics, Revvity 2 0 0 0 0 0 2
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 1 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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