ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val) (rs144649618)

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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 RCV000720315 SCV000851192 likely benign Seizures 2018-02-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000713507 SCV000844128 likely benign not provided 2017-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000431452 SCV000519135 likely benign not specified 2016-06-09 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 RCV000636531 SCV000757970 likely benign Early infantile epileptic encephalopathy 2017-09-06 criteria provided, single submitter clinical testing

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