ClinVar Miner

Variants studied for Usher syndrome type 1D

Included ClinVar conditions (5):
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
28 6 306 33 71 2 440

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDH23 16 4 245 25 56 2 342
C10orf105, CDH23 3 0 26 5 6 0 40
CDH23, PSAP 0 0 19 2 9 0 30
PCDH15 8 1 12 0 0 0 21
CDH23, LOC111982869 0 1 4 1 0 0 6
LOC105378311, PCDH15 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 268 30 71 0 369
Fulgent Genetics,Fulgent Genetics 5 1 19 0 0 0 25
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 11 0 0 0 12
National Institute on Deafness and Communication Disorders,National Institutes of Health 6 1 4 0 0 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 6 0 0 0 8
OMIM 6 0 1 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 4
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 3 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 2 0 0 0 3
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 2 1 0 0 0 0 3
Human Genetics - Radboudumc,Radboudumc 2 0 1 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Nilou-Genome Lab 0 0 0 2 0 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 1 0 0 0 0 0 1

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