ClinVar Miner

Variants studied for Gamma-aminobutyric acid transaminase deficiency

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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
27 26 324 324 71 1 739

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 26 26 315 324 71 1 729
ABAT, PMM2, TMEM186 1 0 6 0 0 0 7
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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 10 9 237 308 31 0 595
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 2 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
3billion, Medical Genetics 0 0 0 1 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 1 0 0 0 0 0 1

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