ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.5478+12G>A

gnomAD frequency: 0.00067  dbSNP: rs41275900
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128261 SCV000171853 benign not specified 2013-05-15 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.
Genetic Services Laboratory, University of Chicago RCV000147638 SCV000195087 uncertain significance Developmental and epileptic encephalopathy, 5 2013-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000147638 SCV002056600 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055826 SCV002390328 benign Early infantile epileptic encephalopathy with suppression bursts 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430700 SCV004156422 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SPTAN1: BS1

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