Variants studied for congenital disorder of glycosylation, type Iw, autosomal dominant

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
8	5	9	1	0	17

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
STT3A	7	5	9	1	16
CACNA1D	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
OMIM	7	0	0	0	7
SIB Swiss Institute of Bioinformatics	1	3	3	0	7
Undiagnosed Diseases Network, NIH	1	0	1	0	2
Baylor Genetics	0	0	1	0	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	0	1	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	1

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