ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) (rs147132904)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000178648 SCV000171861 benign not specified 2013-11-26 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178648 SCV000230769 benign not specified 2015-05-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000178648 SCV000249027 uncertain significance not specified 2014-11-24 criteria provided, single submitter clinical testing
Invitae RCV000560348 SCV000633790 benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678850 SCV000805041 uncertain significance Generalized tonic-clonic seizures 2017-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717836 SCV000848696 likely benign Seizures 2017-01-09 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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