Variants studied for Van Maldergem syndrome 1

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
7	1	15	4	6	32

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
DCHS1	7	1	15	4	6	32

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Baylor Genetics	0	0	6	0	0	6
Genome-Nilou Lab	0	0	0	0	6	6
OMIM	3	0	0	0	0	3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	3	0	0	3
MGZ Medical Genetics Center	0	1	1	0	0	2
Service de Génétique Moléculaire, Hôpital Robert Debré	0	0	0	2	0	2
Duke University Health System Sequencing Clinic, Duke University Health System	1	0	1	0	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	0	2	0	2
Gene Discovery Core-Manton Center, Boston Children's Hospital	1	0	1	0	0	2
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Reproductive Health Research and Development, BGI Genomics	0	0	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	0	1

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