Variants studied for Hyperglycinuria

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	affects	total
0	1	123	21	27	3	172

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	likely pathogenic	uncertain significance	likely benign	benign	affects	total
SLC6A20	0	119	21	21	1	161
SLC36A2	0	2	0	4	1	5
SLC6A19	1	2	0	2	0	5
SLC36A1, SLC36A2	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	likely pathogenic	uncertain significance	likely benign	benign	affects	total
Illumina Laboratory Services, Illumina	0	119	21	20	0	160
Genome-Nilou Lab	0	0	0	9	0	9
OMIM	0	0	0	0	3	3
Neuberg Centre For Genomic Medicine, NCGM	1	2	0	0	0	3
Mendelics	0	1	0	1	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	0	0	0	1	0	1

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