Variants studied for CLOVES 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	not provided	total
13	10	0	0	0	3	20

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	not provided	total
PIK3CA	12	7	3	16
PIK3R1	0	3	0	3
GNA11	1	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	not provided	total
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	8	0	0	8
GeneReviews	1	0	3	4
OMIM	4	0	0	4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	1	1	0	2
Institute of Human Genetics, University of Leipzig Medical Center	1	1	0	2
Institute of Tissue Medicine and Pathology, University of Bern	0	2	0	2
Solve-RD Consortium	0	2	0	2
Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School	0	2	0	2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	1	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	1	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	1	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	1
Medical Genetics Laboratory, Aldo Moro University of Bari	1	0	0	1

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