ClinVar Miner

Variants studied for cerebellar hypoplasia-tapetoretinal degeneration syndrome

Included ClinVar conditions (12):
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
2 5 51 9 7 72

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
VLDLR 0 0 46 8 7 59
USH2A 0 0 2 0 0 2
​intergenic 0 0 1 0 0 1
ADGRG2, MAP3K15, PDHA1, SH3KBP1 0 0 1 0 0 1
ARID1A 0 1 0 0 0 1
BCOR 0 0 1 0 0 1
CASK 0 1 0 0 0 1
DYNC1H1 0 0 0 1 0 1
FLG 1 0 0 0 0 1
KCTD3 0 1 0 0 0 1
OPHN1 0 1 0 0 0 1
SEPSECS 0 1 0 0 0 1
TSEN54 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 46 8 7 59
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 4 4 1 0 11
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 1

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