ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) (rs201566142)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716346 SCV000847186 likely benign Seizures 2016-07-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173236 SCV000224331 likely benign not specified 2014-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000173236 SCV000166967 benign not specified 2014-01-31 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.
Invitae RCV000468162 SCV000561545 benign Pyridoxine-dependent epilepsy 2017-08-31 criteria provided, single submitter clinical testing

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