ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) (rs143941068)

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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 RCV000720585 SCV000851464 likely benign Seizures 2017-01-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000713505 SCV000844126 benign not provided 2018-04-18 criteria provided, single submitter clinical testing
GeneDx RCV000147612 SCV000171825 benign not specified 2013-10-16 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.
Genetic Services Laboratory, University of Chicago RCV000147612 SCV000195061 likely benign not specified 2014-04-21 criteria provided, single submitter clinical testing
Invitae RCV000549985 SCV000633761 benign Early infantile epileptic encephalopathy 2017-08-25 criteria provided, single submitter clinical testing

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