ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) (rs149318543)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720646 SCV000851525 likely benign Seizures 2017-02-01 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 RCV000179189 SCV000231396 likely benign not specified 2015-04-02 criteria provided, single submitter clinical testing
GeneDx RCV000179189 SCV000243126 benign not specified 2014-06-17 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 RCV000302111 SCV000477542 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000636594 SCV000758033 benign Early infantile epileptic encephalopathy 2017-12-11 criteria provided, single submitter clinical testing

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