ClinVar Miner

Variants studied for Usher syndrome type 1

Included ClinVar conditions (15):
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
180 272 400 37 5 850

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYO7A 93 137 127 13 3 341
PCDH15 19 83 186 11 1 293
USH1C 14 31 65 13 1 120
CDH23 33 11 12 0 0 56
C10orf105, CDH23 9 0 7 0 0 15
USH1G 6 1 1 0 0 8
LOC105378311, PCDH15 0 3 1 0 0 4
CDH23, LOC111982869 2 1 0 0 0 3
ADGRV1 0 2 0 0 0 2
OTOP2, USH1G 1 1 0 0 0 2
USH2A 0 2 0 0 0 2
CDH23, PSAP 0 0 1 0 0 1
CIB2 1 0 0 0 0 1
ESPN 1 0 0 0 0 1
LOC105378311, MIR548F1, PCDH15 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 34 198 364 37 1 634
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 104 56 0 0 0 160
Fulgent Genetics 16 3 27 0 0 46
OMIM 40 0 3 0 0 43
GeneReviews 22 9 0 0 1 32
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 6 0 0 0 7
Integrated Genetics/Laboratory Corporation of America 5 1 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 2 0 0 0 5
Molecular Diagnostics Laboratory,M Health: University of Minnesota 5 0 0 0 0 5
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 2 2 0 0 0 4
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 3 0 0 3
Centre de Biotechnologie de Sfax,Université de Sfax 3 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 2 0 0 3
Human Genetics - Radboudumc,Radboudumc 2 0 1 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 0 3 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 2 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 2 0 0 0 2
Hereditary Research Laboratory,Bethlehem University 1 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 1 0 0 0 0 1

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