ClinVar Miner

Variants in gene ABAT

Minimum submission review status: Collection method:
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Gene type:
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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
15 2 191 72 56 1 316

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gamma-aminobutyric acid transaminase deficiency 15 1 175 52 55 1 287
not provided 0 1 19 26 12 0 57
not specified 0 0 2 3 2 0 7

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 1 90 52 12 0 155
Illumina Clinical Services Laboratory,Illumina 0 0 90 13 50 0 153
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 13 3 2 0 18
Athena Diagnostics Inc 0 0 2 2 10 0 14
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 5 8 0 13
OMIM 8 0 0 0 0 0 8
Elsea Laboratory,Baylor College of Medicine 6 0 0 0 0 0 6
Bonnen Lab,Baylor College of Medicine 5 0 0 0 0 0 5
GeneDx 0 0 3 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 0 0 3
Lineagen, Inc 0 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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