ClinVar Miner

Variants in gene CDH3

Minimum submission review status: Collection method:
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Gene type:
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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
14 7 208 70 25 1 304

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 7 2 136 63 18 1 217
EEM syndrome 2 1 88 7 18 0 116
not specified 0 0 2 3 3 0 7
Congenital hypotrichosis with juvenile macular dystrophy 4 1 0 0 0 0 5
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
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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 2 117 61 10 0 196
Illumina Clinical Services Laboratory,Illumina 0 0 87 7 18 0 112
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 22 3 3 0 30
GeneDx 0 0 3 0 8 0 11
OMIM 4 0 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 2 0 0 4
Sharon lab,Hadassah-Hebrew University Medical Center 2 2 0 0 0 0 4
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, 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
Human Genetics - Radboudumc,Radboudumc 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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