ClinVar Miner

Variants studied for Mayer-Rokitansky-Kuster-Hauser syndrome type 1

Included ClinVar conditions (2):
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
3 1 9 0 0 13

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
GREB1L 2 1 7 10
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PRKAB2 1 0 0 1
HNRNPCL1 0 0 1 1
WNT4 0 0 1 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance total
Human Genetic Laboratory,University of Liege 2 1 7 10
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1
Medical Genetics Laboratory,CHRU Nancy 1 0 0 1

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