Variants studied for ALG2-congenital disorder of glycosylation

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
6	6	164	108	12	1	290

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	benign	not provided	total
ALG2	6	6	163	108	12	1	289
ALG2, ANKS6, ANP32B, COL15A1, CORO2A, ERP44, FOXE1, GABBR2, GALNT12, HEMGN, INVS, NANS, NCBP1, NR4A3, SEC61B, STX17, TBC1D2, TDRD7, TGFBR1, TMOD1, TRIM14, TRMO, TSTD2, XPA	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	0	1	159	105	12	0	277
Fulgent Genetics, Fulgent Genetics	0	0	4	3	1	0	8
OMIM	5	0	0	0	0	0	5
Baylor Genetics	0	0	5	0	0	0	5
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	1	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	1	0	0	0	2
Genomics England Pilot Project, Genomics England	0	2	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences	1	0	0	0	0	0	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	1	0	0	0	0	1

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