ClinVar Miner

Variants from Molecular Diagnostics Laboratory,Seoul National University Hospital

Location: Korea, Republic of — Primary collection method: clinical testing
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 0 12 0 0 26

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic uncertain significance total
CEP290 4 0 4
RPGRIP1 4 0 4
USH2A 0 3 3
AHI1 2 0 2
CRB1 2 0 2
NPHP4 0 2 2
FANCA 1 0 1
FSCN2 0 1 1
GUCA1B 0 1 1
IQCB1 1 0 1
LOC100507291, RBP1 0 1 1
LRP5 0 1 1
NPHP1 0 1 1
NPHP3, NPHP3-ACAD11 0 1 1
RIMS1 0 1 1

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic uncertain significance total
Leber congenital amaurosis 0 12 12
Leber congenital amaurosis 10 4 0 4
Leber congenital amaurosis 6 4 0 4
Joubert syndrome 3 2 0 2
Leber congenital amaurosis 8 2 0 2
Fanconi anemia, complementation group A 1 0 1
Senior-Loken syndrome 5 1 0 1

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