ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5149-10C>T

gnomAD frequency: 0.00001  dbSNP: rs587784437
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147634 SCV000195083 uncertain significance Developmental and epileptic encephalopathy, 5 2012-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000189467 SCV000243108 benign not specified 2014-07-11 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.
Genome-Nilou Lab RCV000147634 SCV002056594 uncertain significance Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV002055933 SCV002382914 likely benign Early infantile epileptic encephalopathy with suppression bursts 2020-11-06 criteria provided, single submitter clinical testing

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