ClinVar Miner

Variants studied for Leydig cell hypoplasia

Included ClinVar conditions (3):
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
21 4 38 12 17 92

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LHCGR, STON1-GTF2A1L 13 4 37 12 13 79
LHB 6 0 1 0 4 11
LHCGR 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 37 12 13 62
OMIM 16 0 0 0 0 16
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 3 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 1 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 1
Magee Womens Research Institute,University of Pittsburgh Medical Center 0 1 0 0 0 1
Genetics Department,Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 1
Pediatric Endocrinology Clinic,Ege University School of Medicine 1 0 0 0 0 1

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