ClinVar Miner

Variants studied for partial bilateral aplasia of the mullerian ducts

Included ClinVar conditions (6):
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
12 1 24 3 1 41

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GREB1L 6 1 15 0 0 22
WNT4 3 0 4 3 1 11
GREB1L, LOC101927521 0 0 4 0 0 4
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PRKAB2 1 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 1
ESCO1, GREB1L 1 0 0 0 0 1
HNRNPCL1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 12 0 0 16
Human Genetic Laboratory, University of Liege 2 1 7 0 0 10
Fulgent Genetics, Fulgent Genetics 0 0 1 3 1 5
OMIM 3 0 0 0 0 3
Baylor Genetics 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 1

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