ClinVar Miner

Variants studied for indeterminate sex and/or pseudohermaphroditism

Included ClinVar conditions (4):
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
28 8 5 2 4 47

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AMH 6 1 5 2 3 17
AMHR2 9 4 0 0 1 14
HSD17B3, SLC35D2-HSD17B3 10 3 0 0 0 13
AMH, LOC130063038, MIR4321 2 0 0 0 0 2
LHCGR, STON1-GTF2A1L 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 11 3 0 0 0 14
OMIM 8 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 1 0 3 1 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 3 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 1 0 0 0 3
Revvity Omics, Revvity 1 0 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 1 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
3billion 1 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 1 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 1

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