ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.505-20C>T

dbSNP: rs779640676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424720 SCV000526030 likely benign not specified 2016-03-30 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 RCV002062746 SCV002450565 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-11-29 criteria provided, single submitter clinical testing

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