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
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 not provided 2018-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720080 SCV000850956 likely benign Seizures 2018-01-19 criteria provided, single submitter clinical testing 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

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