ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2011+10G>A

gnomAD frequency: 0.00018  dbSNP: rs377437879
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186665 SCV000171827 benign not specified 2014-01-30 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.
Eurofins Ntd Llc (ga) RCV000724563 SCV000226247 uncertain significance not provided 2015-02-27 criteria provided, single submitter clinical testing
Invitae RCV001079430 SCV001007908 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-11-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808359 SCV002056541 likely benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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