Variants studied for Aarskog 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
23	12	24	3	2	61

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
FGD1	22	8	18	3	1	50
FGD1, TSR2	1	4	6	0	1	11

Submitter and significance breakdown #

Total submitters: 24

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OMIM	12	0	0	0	0	12
Revvity Omics, Revvity	0	1	7	0	0	8
Center for Human Genetics, Inc, Center for Human Genetics, Inc	1	3	3	0	0	7
Mendelics	2	0	2	1	0	5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	2	2	0	0	0	4
3billion	2	1	1	0	0	4
Baylor Genetics	1	1	1	0	0	3
Institute of Human Genetics, University of Leipzig Medical Center	1	0	2	0	0	3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	1	2	0	0	3
MGZ Medical Genetics Center	0	1	1	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	1	0	0	2
Fulgent Genetics, Fulgent Genetics	1	0	0	1	0	2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	1	1	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	1	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	2	0	2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	1	0	0	0	0	1
Keegan Laboratory, University of Michigan	0	0	1	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	0	0	1	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	0	1	0	0	1

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