Variants studied for Stuve-Wiedemann 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	total
13	5	182	35	60	282

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
LIFR	11	5	181	35	60	279
CCNO-DT, IL6ST	1	0	0	0	0	1
HSPG2	0	0	1	0	0	1
IL6ST	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	162	13	40	215
Natera, Inc.	3	2	17	20	17	59
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	4	3	9	16
Genome-Nilou Lab	0	0	0	0	9	9
OMIM	6	0	0	0	0	6
Baylor Genetics	1	0	2	0	0	3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	2	0	0	0	2
Institute of Human Genetics, Cologne University	0	1	1	0	0	2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	2	0	0	0	0	2
Rare Disease Group, Clinical Genetics, Karolinska Institutet	2	0	0	0	0	2
Centogene AG - the Rare Disease Company	1	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	1	0	0	0	0	1

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