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 total
45 11 26 0 0 82

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CDH23 32 9 12 53
C10orf105, CDH23 8 0 7 15
PCDH15 3 1 6 10
CDH23, LOC111982869 2 1 0 3
CDH23, PSAP 0 0 1 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 30 8 0 38
Fulgent Genetics 5 1 19 25
OMIM 6 0 1 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 0 3
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 3 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 2 3
Human Genetics - Radboudumc,Radboudumc 2 0 1 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 3 0 0 3
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 1 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 1

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