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 1 111 45 35 1 188

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 0 93 35 32 1 166
not provided 0 1 18 8 11 0 37
not specified 0 0 2 3 2 0 7

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 58 22 20 0 100
Invitae 0 0 38 13 12 0 63
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 13 3 2 0 18
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 5 8 0 13
Athena Diagnostics Inc 0 0 2 1 8 0 11
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
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1

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