Variants studied for Wolfram 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	not provided	total
32	9	18	1	5	3	66

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	not provided	total
WFS1	29	9	18	1	5	2	62
CISD2, SLC9B1	2	0	0	0	0	0	2
CISD2	1	0	0	0	0	0	1
HERC2	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
OMIM	22	0	0	0	0	0	22
Fulgent Genetics,Fulgent Genetics	0	0	15	0	0	0	15
Mendelics	2	1	1	1	5	0	10
Genetic Services Laboratory, University of Chicago	3	4	0	0	0	0	7
Baylor Genetics	1	1	2	0	0	0	4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	4	0	0	0	0	0	4
GenomeConnect, ClinGen	0	0	0	0	0	3	3
Institute of Human Genetics, Klinikum rechts der Isar	2	0	0	0	0	0	2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	1	1	0	0	0	0	2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	0	1
New York Genome Center	0	1	0	0	0	0	1

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