ClinVar Miner

Variants studied for Basal ganglia calcification, idiopathic, 4

Coded as:
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 not provided total
3 1 4 0 6 2 13

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
PDGFRB 3 1 4 6 2 13

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 1 0 5
Genome-Nilou Lab 0 0 0 5 0 5
OMIM 2 0 0 0 0 2
GeneReviews 0 0 0 0 2 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Rademakers Lab, Mayo Clinic 0 1 0 0 0 1

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