ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) (rs138609094)

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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 RCV000719550 SCV000850419 likely benign Seizures 2016-03-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179370 SCV000231608 likely benign not specified 2014-05-07 criteria provided, single submitter clinical testing
GeneDx RCV000179370 SCV000171818 benign not specified 2014-01-24 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 RCV000472180 SCV000562970 benign Early infantile epileptic encephalopathy 2017-12-27 criteria provided, single submitter clinical testing

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