ClinVar Miner

Variants studied for Usher syndrome type 3A

Included ClinVar conditions (1):
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 13 5 1 46

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CLRN1 14 15 13 5 1 46

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 3 13 12 5 1 34
OMIM 8 0 0 0 0 8
Sharon lab,Hadassah-Hebrew University Medical Center 4 1 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 4 0 0 0 0 4
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 3 0 0 0 0 3
Baylor Genetics 1 1 0 0 0 2
Human Genetics - Radboudumc,Radboudumc 1 0 1 0 0 2
The Cell Therapy Center,The University of Jordan 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Mendelics 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
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 1

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