ClinVar Miner

Variants in gene combination PCDH12, RNF14

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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
17 15 194 133 39 365

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 13 2 131 117 37 294
Inborn genetic diseases 0 0 81 15 0 96
Diencephalic-mesencephalic junction dysplasia syndrome 1 8 11 9 0 6 32
PCDH12-related disorder 0 0 0 7 5 12
Diencephalic-mesencephalic junction dysplasia 4 1 2 0 0 6
Exudative retinopathy; Cerebellar ataxia; Dystonic disorder; Abnormal facial shape 0 1 0 0 0 1
Marshall syndrome 0 0 1 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 1
not specified 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 10 0 122 115 32 279
Ambry Genetics 0 0 81 15 0 96
GeneDx 3 1 7 0 12 23
CeGaT Center for Human Genetics Tuebingen 2 0 3 6 2 13
PreventionGenetics, part of Exact Sciences 0 0 0 7 5 12
Revvity Omics, Revvity 1 2 3 0 0 6
Genome-Nilou Lab 0 0 0 0 6 6
Breakthrough Genomics, Breakthrough Genomics 0 0 1 5 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 4 0 0 5
OMIM 3 0 0 0 0 3
Baylor Genetics 0 1 2 0 0 3
Yale Center for Mendelian Genomics, Yale University 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 2 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1

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