Variants studied for Nager acrofacial dysostosis

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
29	0	6	1	0	36

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	uncertain significance	likely benign	total
SF3B4	27	6	1	34
LOC129931382, SF3B4	2	0	0	2

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	uncertain significance	likely benign	total
Clinical Genetics Research Group, University of Calgary	18	0	0	18
OMIM	5	0	0	5
Genetic Services Laboratory, University of Chicago	4	0	0	4
Revvity Omics, Revvity	1	1	0	2
Fulgent Genetics, Fulgent Genetics	0	0	1	1
Illumina Laboratory Services, Illumina	0	1	0	1
Clinical Genetics and Genomics, Karolinska University Hospital	1	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	1	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	1
Genomic Medicine Lab, University of California San Francisco	1	0	0	1
New York Genome Center	0	1	0	1
Institute of Medical Genetics, Medical University of Vienna	1	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	1	0	1
Molecular Genetics, Royal Melbourne Hospital	0	1	0	1

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