ClinVar Miner

Variants in gene ALDH7A1

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Minimum submission review status: Collection method:
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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
37 22 147 80 36 284

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Pyridoxine-dependent epilepsy 21 4 93 31 23 160
not provided 23 17 57 2 0 98
not specified 0 0 7 54 23 74
Seizures 4 0 11 4 6 25
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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 20 17 49 45 21 152
Invitae 15 3 41 17 8 84
Illumina Clinical Services Laboratory,Illumina 1 0 49 13 12 75
Ambry Genetics 5 0 11 4 6 26
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 0 13 2 2 22
Genetic Services Laboratory, University of Chicago 0 0 4 5 1 10
OMIM 9 0 0 0 0 9
PreventionGenetics 0 0 0 2 4 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 1 3 5
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
Athena Diagnostics Inc 0 0 1 2 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 2 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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