Variants studied for Werdnig-Hoffmann disease

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
15	4	3	0	0	21

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
SMN1	15	4	1	19
SMN2	0	0	2	2

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	8	0	0	8
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	2	1	1	4
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron	0	0	2	2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	2	0	2
Neurogenetics Department, Cyprus Institute of Neurology and Genetics	1	0	0	1
MGZ Medical Genetics Center	1	0	0	1
Centogene AG - the Rare Disease Company	1	0	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	1	0	1
Coyote Medical Laboratory (Beijing), Coyote	1	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	1	0	0	1
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague	1	0	0	1

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