ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6190G>A (p.Ala2064Thr) (rs201411901)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720080 SCV000850956 likely benign Seizures 2018-01-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes),Subpopulation frequency in support of benign classification,Other data supporting benign classification
GeneDx RCV000189474 SCV000243115 likely benign not specified 2016-10-13 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 RCV000233326 SCV000286171 benign Early infantile epileptic encephalopathy 2017-06-20 criteria provided, single submitter clinical testing

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