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 not provided total
127 230 405 37 11 3 785

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PCDH15 16 84 186 11 5 0 297
MYO7A 63 99 128 13 3 1 290
USH1C 16 32 67 13 2 0 125
CDH23 17 6 13 0 0 2 38
USH1G 8 1 2 0 1 0 12
C10orf105, CDH23 4 0 7 0 0 0 10
LOC105378311, PCDH15 0 3 1 0 0 0 4
ADGRV1 0 2 0 0 0 0 2
OTOP2, USH1G 1 1 0 0 0 0 2
USH2A 0 2 0 0 0 0 2
CDH23, PSAP 0 0 1 0 0 0 1
CIB2 1 0 0 0 0 0 1
ESPN 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 28 192 366 37 1 0 624
Fulgent Genetics,Fulgent Genetics 16 3 27 0 0 0 46
OMIM 40 0 3 0 0 0 43
GeneReviews 22 9 0 0 1 0 32
Sharon lab,Hadassah-Hebrew University Medical Center 16 3 0 0 0 0 19
Baylor Genetics 9 7 0 0 0 0 16
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 6 1 0 0 0 8
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 6 2 0 0 0 0 8
Mendelics 2 0 0 0 5 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 3 0 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 4 1 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health: University of Minnesota 5 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 1 0 0 0 4
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 3 0 0 0 3
Centre de Biotechnologie de Sfax,Université de Sfax 3 0 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 2 0 0 0 3
Human Genetics - Radboudumc,Radboudumc 2 0 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 0 3 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 1 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 2 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 2 0 0 0 0 2
Hereditary Research Laboratory,Bethlehem University 1 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 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 0 1
Medical Genetics and Immunology,Urmia University of Medical sciences 1 0 0 0 0 0 1

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