Variants studied for Autosomal dominant Robinow syndrome 2

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
17	10	9	2	5	14	46

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	not provided	total
DVL1	13	3	9	2	5	7	31
DVL3	0	1	0	0	0	6	6
DVL1, LOC129929114	2	3	0	0	0	1	4
FZD2	1	3	0	0	0	0	4
CHN1	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	10	9	0	0	0	0	19
GeneReviews	0	0	0	0	0	14	14
OMIM	6	0	0	0	0	0	6
Genome-Nilou Lab	0	0	0	0	5	0	5
Revvity Omics, Revvity	0	0	4	0	0	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	1	0	0	3
Mendelics	1	0	0	1	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
MGZ Medical Genetics Center	0	1	0	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	0	1
Human Genetics Laboratory, State University of Rio de Janeiro	0	0	1	0	0	0	1
Autoinflammatory diseases unit, CHU de Montpellier	1	0	0	0	0	0	1
Central Lab, Second People's Hospital of Yunnan Province	1	0	0	0	0	0	1
3billion	1	0	0	0	0	0	1
Institute of Immunology and Genetics Kaiserslautern	1	0	0	0	0	0	1

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