Variants in gene C1GALT1C1

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	1	22	12	4	44

Condition and significance breakdown #

Total conditions: 7

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Polyagglutinable erythrocyte syndrome	6	0	10	12	4	30
not specified	0	0	13	0	0	13
Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature	2	0	1	1	0	4
not provided	0	0	1	0	3	4
C1GALT1C1-related disorder	0	0	0	1	2	3
Abnormal protein O-linked glycosylation	0	1	0	0	0	1
Atypical hemolytic-uremic syndrome	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	0	10	11	4	25
Ambry Genetics	0	0	13	0	0	13
OMIM	7	0	0	0	0	7
PreventionGenetics, part of Exact Sciences	0	0	0	1	2	3
Breakthrough Genomics, Breakthrough Genomics	0	0	0	0	3	3
Institute of Human Genetics, Cologne University	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
CeGaT Center for Human Genetics Tuebingen	0	0	1	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev	1	0	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	0	1	0	1
Department of Transfusion Medicine, Fujian Provincial Hospital	1	0	0	0	0	1

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