ClinVar Miner

Variants in gene combination POLR3A, RPS24

See also:
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
0 0 3 3 2 5

Condition and significance breakdown #

Total conditions: 6
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Condition uncertain significance likely benign benign total
Diamond-Blackfan anemia 0 3 1 4
Pol III-related leukodystrophy 1 1 1 3
Diamond-Blackfan anemia 3 0 0 2 2
Hypomyelinating leukodystrophy 7 2 0 0 2
not provided 1 0 0 1
not specified 0 1 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 2 3 2 4
Genetic Services Laboratory, University of Chicago 0 1 0 1
Lineagen, Inc 1 0 0 1

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