ClinVar Miner

Variants in gene combination ALDH5A1, GPLD1, LOC129995978

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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 total
19 2 82 67 4 163

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Succinate-semialdehyde dehydrogenase deficiency 19 2 68 63 3 154
not provided 3 0 19 7 3 28
Inborn genetic diseases 0 0 13 0 0 13
ALDH5A1-related disorder 0 0 0 4 2 6
not specified 0 0 1 0 2 3
Intellectual disability 0 0 0 1 0 1
Seizure 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 11 0 62 63 3 139
GeneDx 3 0 11 6 2 22
Ambry Genetics 0 0 13 0 0 13
Elsea Laboratory, Baylor College of Medicine 11 2 0 0 0 13
Eurofins Ntd Llc (ga) 0 0 8 0 2 10
Illumina Laboratory Services, Illumina 0 0 3 3 2 8
PreventionGenetics, part of Exact Sciences 0 0 0 4 2 6
CeGaT Center for Human Genetics Tuebingen 0 0 3 2 0 5
Fulgent Genetics, Fulgent Genetics 1 0 2 0 0 3
Baylor Genetics 0 0 2 0 0 2
Laboratory of Metabolic Disorders, Peking University First Hospital 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
3billion 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 0 1

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