ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) (rs61757684)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716353 SCV000847193 benign Seizures 2016-07-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000441298 SCV000511679 likely benign not provided 2017-01-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000387206 SCV000734373 likely benign Pyridoxine-dependent epilepsy no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175287 SCV000226753 likely benign not specified 2014-08-18 criteria provided, single submitter clinical testing
GeneDx RCV000175287 SCV000240285 benign not specified 2016-08-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000175287 SCV000593098 benign not specified 2015-08-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000387206 SCV000743968 likely benign Pyridoxine-dependent epilepsy 2015-03-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387206 SCV000452302 uncertain significance Pyridoxine-dependent epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000387206 SCV000561547 benign Pyridoxine-dependent epilepsy 2017-11-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000175287 SCV000306969 likely benign not specified criteria provided, single submitter clinical testing

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