ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) (rs369380330)

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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 RCV000717580 SCV000848433 likely benign Seizures 2016-10-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000123614 SCV000166953 benign not specified 2013-12-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000284381 SCV000452309 uncertain significance Pyridoxine-dependent epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000284381 SCV000640327 likely benign Pyridoxine-dependent epilepsy 2017-06-14 criteria provided, single submitter clinical testing

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