ClinVar Miner

Variants studied for Seckel syndrome 1

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
5 4 210 44 20 283

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ATR 5 3 71 14 5 98
CEP152 0 1 46 12 3 62
CENPJ 0 0 35 10 4 49
RBBP8 0 0 31 4 1 36
CENPJ, RNF17 0 0 22 3 6 31
MIR4741, RBBP8 0 0 5 1 1 7

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 198 44 20 262
Genetic Services Laboratory, University of Chicago 1 1 13 0 0 15
OMIM 4 0 0 0 0 4
Fulgent Genetics 0 0 2 0 0 2
Stewart Lab,University of Birmingham 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1

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