ClinVar Miner

Variants from Matlow's Ophthalmo-genetic Laboratory, Assaf Harofe Medical Center

Location: Israel  Primary collection method: research
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
1 2 0 0 0 3

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic total
LOC126863256, WDR45 0 1 1
SLC38A8 1 0 1
WDR45 0 1 1

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic likely pathogenic total
Optic atrophy 2 0 2 2
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 1 0 1

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