ClinVar Miner

Variants studied for Usher syndrome type 3

Included ClinVar conditions (3):
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
14 15 43 11 9 88

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HARS 1 1 30 6 8 46
CLRN1 13 14 13 5 1 42

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 30 6 7 43
Counsyl 3 13 12 5 1 34
OMIM 9 0 0 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 6 1 0 0 0 7
Integrated Genetics/Laboratory Corporation of America 4 0 0 0 0 4
Human Genetics - Radboudumc,Radboudumc 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1
The Cell Therapy Center,The University of Jordan 1 0 0 0 0 1

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