ClinVar Miner

Variants studied for PAX6-related ocular dysgenesis

Included ClinVar conditions (9):
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
8 9 84 10 45 154

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ELP4, PAX6 2 1 57 2 38 99
PAX6 4 7 16 5 6 37
LOC106014249, PAX6 0 0 4 0 1 5
COL4A1 1 0 2 0 0 3
COL4A2 0 1 2 0 0 3
CYP26C1 0 0 0 2 0 2
CYP26A1 0 0 1 0 0 1
LOC132090076, SOX5 1 0 0 0 0 1
OPA1 0 0 1 0 0 1
SPG7 0 0 1 0 0 1
UBE3B 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 75 5 44 124
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 2 7 3 0 14
Fulgent Genetics, Fulgent Genetics 2 0 1 1 0 4
OMIM 3 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 2
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 2 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1
3billion 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1

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