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
45 30 222 108 80 436

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Pyridoxine-dependent epilepsy 28 11 181 33 37 277
not provided 26 19 60 30 31 164
not specified 0 0 7 54 23 74
Seizures 4 1 11 4 6 26
Seizures; Ventriculomegaly 2 0 0 0 0 2
Abnormality of brain morphology 0 1 0 0 0 1
Inborn genetic diseases 1 0 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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 20 18 49 57 52 196
Invitae 23 10 94 39 10 176
Illumina Clinical Services Laboratory,Illumina 1 0 88 7 30 126
Ambry Genetics 5 0 11 4 6 26
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 0 13 2 2 22
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 5 1 0 12
Genetic Services Laboratory, University of Chicago 0 0 4 5 1 10
OMIM 9 0 0 0 0 9
PreventionGenetics,PreventionGenetics 0 0 0 2 4 6
Athena Diagnostics Inc 0 0 1 4 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 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
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

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