Variants studied for Persistent Mullerian duct syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
10	3	4	1	4	22

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
AMH	3	1	4	1	3	12
AMHR2	6	2	0	0	1	9
AMH, LOC130063038, MIR4321	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
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
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Mendelics	0	0	0	0	1	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
3billion	1	0	0	0	0	1
Pediatric Endocrinology Clinic, Ege University School of Medicine	1	0	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	1

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