ClinVar Miner

Variants studied for 46,XY disorder of sex development due to a testosterone synthesis defect

Included ClinVar conditions (9):
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 risk factor not provided total
101 95 113 15 15 1 4 308

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
DHCR7 40 68 87 14 15 0 2 194
STAR 15 20 6 0 0 0 0 38
CYP11A1 9 1 13 1 0 0 0 24
POR 7 3 4 0 0 0 0 13
HSD17B3 11 1 0 0 0 0 0 12
HSD3B2 10 1 0 0 0 0 0 11
CYP17A1 5 1 1 0 0 0 2 9
AKR1C2 4 0 0 0 0 0 0 4
CYP11A1, LOC108964933 0 0 2 0 0 0 0 2
AKR1C4 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Counsyl 14 81 47 0 0 0 0 142
Illumina Clinical Services Laboratory,Illumina 8 4 57 11 5 0 0 85
OMIM 74 0 0 0 0 1 0 75
Invitae 15 2 5 3 7 0 0 32
Fulgent Genetics 12 3 7 0 0 0 0 22
Integrated Genetics/Laboratory Corporation of America 12 4 0 0 0 0 0 16
GeneReviews 12 0 0 0 0 0 0 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 1 0 0 0 0 0 8
Athena Diagnostics Inc 0 0 0 0 6 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 2 0 0 0 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 4 1 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 0 0 1 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 0 1 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 0 1 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 2 0 0 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 0 1

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