ClinVar Miner

Variants in gene ALDH5A1

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Minimum submission review status: Collection method:
Minimum conflict level:
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
32 11 200 64 36 2 318

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Succinate-semialdehyde dehydrogenase deficiency 31 4 186 59 35 2 302
not provided 5 5 18 7 2 0 36
not specified 0 0 7 6 5 0 14
Inborn genetic diseases 3 0 1 0 0 0 4
Intellectual disability 0 1 1 1 0 0 3
EEG abnormality 0 0 1 0 0 0 1
Fetal akinesia sequence; Arthrogryposis multiplex congenita 0 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Seizures 0 0 1 0 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 1 115 47 12 0 200
Illumina Clinical Services Laboratory,Illumina 2 0 82 15 29 0 128
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 9 4 5 0 19
GeneDx 2 4 8 0 0 0 14
Genetic Services Laboratory, University of Chicago 1 0 6 2 0 0 9
OMIM 7 0 0 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 3 1 1 0 7
Ambry Genetics 3 0 1 0 0 0 4
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 0 4
Elsea Laboratory,Baylor College of Medicine 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 1 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Cirak Lab,University Hospital Cologne 0 1 0 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
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder,Children's Hospital of Fudan University 0 1 0 0 0 0 1

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