ClinVar Miner

Variants in gene ALDH5A1

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Minimum submission review status: Collection method:
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Gene type:
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
17 3 112 38 15 2 170

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Succinate-semialdehyde dehydrogenase deficiency 15 1 99 33 15 2 155
not provided 5 2 17 1 1 0 26
not specified 0 0 7 6 5 0 14
Inborn genetic diseases 1 0 1 0 0 0 2
EEG abnormality 0 0 1 0 0 0 1
Malignant tumor of prostate 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
Invitae 8 1 52 15 11 0 87
Illumina Clinical Services Laboratory,Illumina 2 0 50 17 4 0 73
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 9 4 5 0 19
GeneDx 2 2 8 0 0 0 12
Genetic Services Laboratory, University of Chicago 1 0 6 2 0 0 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 3 1 1 0 7
OMIM 6 0 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 0 4
Ambry Genetics 1 0 1 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1

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