Variants studied for Autosomal dominant Robinow 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	not provided	total
14	8	37	9	4	4	70

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
WNT5A	5	6	35	8	2	4	54
DVL3	6	0	0	0	0	0	6
DVL1	1	1	2	0	0	0	4
FZD2	2	1	0	0	0	0	3
ROR2	0	0	0	1	2	0	3

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	14	2	3	0	18
Fulgent Genetics, Fulgent Genetics	0	0	9	7	0	0	16
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	7	6	0	0	0	0	13
Genetic Services Laboratory, University of Chicago	0	1	5	0	0	0	6
OMIM	4	0	0	0	0	0	4
GeneReviews	0	0	0	0	0	4	4
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	2	2	0	0	0	4
Baylor Genetics	0	0	2	0	0	0	2
Revvity Omics, Revvity	0	0	2	0	0	0	2
Mendelics	1	0	0	0	1	0	2
Institute of Human Genetics, University Hospital of Duesseldorf	0	0	1	0	0	0	1
The Division of Genetics and Genomic Medicine, Washington University School of Medicine	0	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	1	0	0	0	0	0	1
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital	1	0	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1

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