ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5415G>A (p.Gln1805=) (rs142964132)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128259 SCV000171851 benign not specified 2013-10-15 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 RCV000458926 SCV000562983 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720341 SCV000851218 likely benign Seizures 2016-09-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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