ClinVar Miner

Variants studied for 46,XY disorder of sex development of endocrine origin

Included ClinVar conditions (21):
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
1176 300 3652 258 53 1 5 5387

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
MSH6 305 30 1281 75 0 0 0 1691
MSH2 209 45 888 51 0 0 1 1192
PMS2 159 36 741 48 2 0 0 985
MLH1 186 63 554 47 5 0 0 855
DHCR7 53 79 91 12 13 0 2 207
AR 95 10 23 0 5 0 0 130
SRD5A2 39 6 26 6 5 0 0 78
LHCGR, STON1-GTF2A1L 14 3 7 17 10 0 0 51
STAR 15 20 6 0 0 0 0 38
CYP11A1 10 1 14 1 0 0 0 25
EPCAM, MIR559, MSH2 14 0 3 0 0 0 0 16
AR, LOC109504725 11 0 1 1 2 0 0 15
POR 7 3 4 0 0 0 0 13
EPCAM 7 0 4 0 1 0 0 12
HSD17B3 11 1 0 0 0 0 0 12
HSD3B2 10 1 0 0 0 0 0 11
LHB 6 0 1 0 4 0 0 11
EPCAM, MIR559 7 0 3 0 0 0 0 10
EPM2AIP1, MLH1 9 0 1 0 0 0 0 10
CYP17A1 5 2 1 0 0 0 2 9
AKR1C2 4 0 0 0 1 0 0 5
AMH 0 0 0 0 3 0 0 3
EPCAM, MSH2 2 0 1 0 0 0 0 3
LHCGR 3 0 0 0 0 0 0 3
CYP11A1, LOC108964933 0 0 2 0 0 0 0 2
DHCR7, NADSYN1 0 0 1 0 1 0 0 2
AKR1C4 0 0 0 0 0 1 0 1
AMHR2 0 0 0 0 1 0 0 1
EPCAM, KCNK12, MIR559, MSH2, MSH2-OT1, MSH6 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 969 192 3502 222 13 0 0 4896
OMIM 149 0 0 0 0 1 0 150
Counsyl 14 82 47 0 0 0 0 143
Illumina Clinical Services Laboratory,Illumina 8 4 78 34 19 0 0 143
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 63 0 11 0 0 0 0 74
Baylor Genetics 31 13 0 0 0 0 0 44
Fulgent Genetics,Fulgent Genetics 14 3 8 0 0 0 0 25
GeneReviews 14 0 0 0 3 0 0 17
Integrated Genetics/Laboratory Corporation of America 12 4 0 0 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 1 11 0 0 14
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 0 0 8 0 0 10
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 0 7 0 0 9
Genetic Services Laboratory, University of Chicago 3 5 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 5 0 0 0 0 8
Mendelics 0 0 3 0 4 0 0 7
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 3 3 1 0 0 0 0 7
Athena Diagnostics Inc 0 0 0 0 6 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 3 0 0 0 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 0 0 1 3 0 0 6
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 5 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 0 0 0 0 4
Natera Inc 0 1 2 0 1 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 1 0 0 0 0 3
Institute of Reproductive and Stem Cell Engineering,Central South University 3 0 0 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 2 0 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 2 0 0 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 0 1
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 0 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 0 1
Magee Womens Research Institute,University of Pittsburgh Medical Center 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Genetics Department,Polish Mother's Memorial Hospital Research Institute 0 0 1 0 0 0 0 1

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