ClinVar Miner

Variants studied for 46 XX gonadal dysgenesis

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
43 26 102 18 16 2 198

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FSHR 7 12 47 4 4 2 74
WNT4 2 0 37 7 1 0 47
BMP15 10 2 7 4 10 0 29
PSMC3IP 8 2 1 0 1 0 11
SOHLH1 2 3 3 1 0 0 8
MRPS22 3 1 3 0 0 0 7
SPIDR 2 3 1 0 0 0 6
NUP107 2 2 0 1 0 0 4
ESR2 1 0 2 0 0 0 3
HROB 3 0 0 0 0 0 3
MLX, PSMC3IP 2 0 0 0 0 0 2
ZSWIM7 1 1 0 0 0 0 2
BNC1 0 0 1 0 0 0 1
NRXN1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 45 8 14 0 67
Fulgent Genetics, Fulgent Genetics 0 1 35 8 1 0 45
OMIM 35 0 0 0 0 0 35
Department of Pathology and Laboratory Medicine, Sinai Health System 1 5 9 1 0 0 16
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 6 0 0 0 8
Mendelics 5 0 2 0 1 0 8
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 6 0 0 0 0 6
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 5 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 4 0 4
Lab of Endocrine and Metabolic Research, Istituto Auxologico Italiano 2 2 0 0 0 0 4
Department of Reproductive Endocrinology, Zhejiang Provincial People's Hospital 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
David Buchner Laboratory, Case Western Reserve University 1 0 0 0 0 0 1
Genetic Lab, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, Royan Institute 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 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
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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