ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=) (rs150731568)

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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 RCV000719628 SCV000850498 likely benign Seizures 2017-08-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000128242 SCV000171834 benign not specified 2014-03-20 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 RCV000392021 SCV000477492 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000636532 SCV000757971 benign Early infantile epileptic encephalopathy 2017-12-09 criteria provided, single submitter clinical testing

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