ClinVar Miner

Variants studied for inherited oocyte maturation defect

Included ClinVar conditions (21):
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
105 46 35 1 16 191

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TUBB8 13 30 10 0 12 63
PATL2 9 4 6 0 1 16
ZP1 9 1 2 0 0 12
CDC20 10 1 0 0 0 11
MOS 10 0 0 0 0 10
KPNA7 5 0 2 0 0 7
NLRP5 5 2 2 0 0 7
TRIP13 5 1 0 0 2 7
WEE2 6 0 1 0 0 7
ZP2 3 1 2 0 0 6
ZP3 2 1 2 1 0 6
BTG4 5 2 0 0 0 5
CHEK1 4 0 1 0 0 5
LOC126862935, NLRP5 2 0 3 0 0 5
PANX1 3 0 2 0 0 5
NLRP2 3 1 0 0 0 4
FBXO43 3 0 0 0 0 3
LOC130006599, PANX1 1 0 0 0 1 2
OOEP 0 0 2 0 0 2
REC114 2 0 0 0 0 2
ZFP36L2 2 0 0 0 0 2
ASTL 1 0 0 0 0 1
LOC130056977, PATL2 1 1 0 0 0 1
LOC130065945, PABPC1L 0 1 0 0 0 1
PABPC1L 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 92 0 0 0 0 92
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 4 27 0 0 0 31
Juno Genomics, Hangzhou Juno Genomics, Inc 5 4 14 0 0 23
Genome-Nilou Lab 0 0 0 0 16 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 4 6 0 0 10
SIB Swiss Institute of Bioinformatics 1 6 3 0 0 10
Clinical Genetics Laboratory, Sir Run Run Shaw hospital 0 2 6 0 0 8
SNPedia 7 0 0 0 0 7
Revvity Omics, Revvity 1 1 3 0 0 5
Diagnostic Laboratory, Strasbourg University Hospital 3 0 0 0 0 3
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 0 2 1 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Center for Reproductive Medicine, University of Science and Technology of China 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 1

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