ClinVar Miner

Variants studied for striatal degeneration, autosomal dominant

Included ClinVar conditions (3):
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
6 2 42 10 46 106

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PDE8B 3 1 41 9 44 98
PDE10A 3 1 1 1 2 8

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 36 8 44 88
OMIM 5 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Mendelics 0 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 1

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