Variants studied for GABA aminotransaminase deficiency

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
22	26	323	291	70	2	703

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ABAT	21	26	314	291	70	1	692
ABAT, PMM2, TMEM186	1	0	6	0	0	1	8
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7	0	0	1	0	0	0	1
ABAT, CARHSP1, PMM2, TMEM186, USP7	0	0	1	0	0	0	1
ABAT, LOC130058390, LOC130058391, LOC130058392, LOC130058393, PMM2, TMEM186	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	7	9	237	276	30	0	559
Illumina Laboratory Services, Illumina	0	0	90	13	50	0	153
Baylor Genetics	1	13	0	0	0	0	14
Genome-Nilou Lab	0	0	0	0	9	0	9
OMIM	8	0	0	0	0	0	8
Elsea Laboratory, Baylor College of Medicine	6	0	0	0	0	0	6
Fulgent Genetics, Fulgent Genetics	0	0	3	3	0	0	6
Bonnen Lab, Baylor College of Medicine	5	0	0	0	0	0	5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	2	1	0	0	0	3
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	0	1
DECIPHERD-UDD, Universidad del Desarrollo	1	0	0	0	0	0	1

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