ClinVar Miner

Variants studied for 46 XX gonadal dysgenesis

Included ClinVar conditions (16):
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 not provided total
28 14 55 13 16 2 122

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FSHR 6 8 43 4 4 2 65
BMP15 10 2 7 4 10 0 29
WNT4 1 0 2 3 1 0 7
MRPS22 2 1 1 0 0 0 4
NUP107 1 1 0 1 0 0 3
SOHLH1 2 1 0 0 0 0 3
SPIDR 2 0 1 0 0 0 3
MLX, PSMC3IP 2 0 0 0 0 0 2
PSMC3IP 0 0 1 0 1 0 2
ZSWIM7 1 1 0 0 0 0 2
ESR2 1 0 0 0 0 0 1
NRXN1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 46 8 14 0 68
OMIM 22 0 0 0 0 0 22
Mendelics 5 0 2 0 1 0 8
Fulgent Genetics, Fulgent Genetics 0 1 1 4 1 0 7
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 6 0 0 0 0 6
Lab of Endocrine and Metabolic Research, Istituto Auxologico Italiano 2 2 0 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Revvity Omics, Revvity 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Reproductive Endocrinology, Zhejiang Provincial People's Hospital 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
David Buchner Laboratory, Case Western Reserve University 1 0 0 0 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran, Royan Institute 0 1 0 0 0 0 1

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