ClinVar Miner

Variants in gene ALDH7A1

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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 total
59 34 274 123 80 511

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Pyridoxine-dependent epilepsy 44 14 237 56 37 372
not provided 29 19 61 31 31 169
not specified 0 0 7 53 23 74
Seizures 4 1 12 4 6 27
Inborn genetic diseases 1 1 0 0 0 2
Intellectual disability 0 0 1 1 0 2
Seizures; Ventriculomegaly 2 0 0 0 0 2
Abnormality of brain morphology 0 1 0 0 0 1
Intractable seizure 0 0 1 0 0 1
Leukoencephalopathy 0 0 1 0 0 1
neonatal seizures 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 38 12 152 55 10 267
GeneDx 20 18 49 57 52 196
Illumina Clinical Services Laboratory,Illumina 1 0 89 7 30 127
Ambry Genetics 5 1 11 4 6 27
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 0 13 2 2 22
CeGaT Praxis fuer Humangenetik Tuebingen 7 2 6 3 0 18
Genetic Services Laboratory, University of Chicago 0 0 4 4 2 10
OMIM 9 0 0 0 0 9
Athena Diagnostics Inc 0 0 1 3 2 6
PreventionGenetics, PreventionGenetics 0 0 0 2 4 6
Baylor Genetics 1 0 4 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 1 3 5
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 0 2 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 2 0 0 3
Mendelics 0 0 0 1 2 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 3
Elsea Laboratory,Baylor College of Medicine 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 1 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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