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
71 72 262 193 70 3 610

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Succinate-semialdehyde dehydrogenase deficiency 70 59 231 178 37 3 542
not provided 12 11 42 24 47 0 132
Inborn genetic diseases 4 2 17 0 0 0 23
not specified 0 0 12 7 6 0 21
ALDH5A1-related condition 1 1 2 3 3 0 10
Intellectual disability 0 1 1 1 0 0 3
See cases 1 0 1 0 0 0 2
EEG abnormality 0 0 1 0 0 0 1
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 0 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1
Seizure 0 0 1 0 0 0 1
Seizure; Intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 40 8 157 163 17 0 385
Illumina Laboratory Services, Illumina 2 0 79 14 29 0 124
GeneDx 9 10 34 21 47 0 121
Elsea Laboratory, Baylor College of Medicine 44 43 0 0 0 0 87
Ambry Genetics 4 2 17 0 0 0 23
Eurofins Ntd Llc (ga) 1 0 7 4 5 0 17
Genetic Services Laboratory, University of Chicago 1 0 9 4 0 0 14
CeGaT Center for Human Genetics Tuebingen 3 0 3 4 1 0 11
PreventionGenetics, part of Exact Sciences 1 1 2 3 3 0 10
Laboratory of Metabolic Disorders, Peking University First Hospital 1 4 5 0 0 0 10
Revvity Omics, Revvity 4 1 3 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 3 0 0 0 7
Fulgent Genetics, Fulgent Genetics 3 1 2 1 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 0 3 1 1 0 7
OMIM 5 0 0 0 0 0 5
New York Genome Center 2 0 3 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 1 0 3
3billion 2 0 1 0 0 0 3
Baylor Genetics 0 0 2 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 0 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham 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
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 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
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1

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