ClinVar Miner

Variants studied for Succinate-semialdehyde dehydrogenase deficiency

Coded as:
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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
94 64 317 248 41 3 727

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALDH5A1 70 59 231 178 37 3 542
ALDH5A1, GPLD1, LOC129995978 18 2 68 56 3 0 146
ALDH5A1, LOC129995978 5 2 17 14 1 0 37
ALDH5A1, DCDC2, GPLD1, KAAG1, MRS2 0 0 1 0 0 0 1
ALDH5A1, LOC129995983 1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 54 8 236 233 21 0 552
Illumina Laboratory Services, Illumina 2 0 84 18 31 0 135
Elsea Laboratory, Baylor College of Medicine 54 47 0 0 0 0 101
Laboratory of Metabolic Disorders, Peking University First Hospital 3 4 5 0 0 0 12
Revvity Omics, Revvity 4 1 6 0 0 0 11
Fulgent Genetics, Fulgent Genetics 4 1 5 1 0 0 11
OMIM 7 0 0 0 0 0 7
Baylor Genetics 0 0 4 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 0 4
3billion 3 0 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
New York Genome Center 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 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
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
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 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
Lifecell International Pvt. Ltd 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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