ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3705+10del

dbSNP: rs570862962
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188817 SCV000242445 benign not specified 2013-09-24 criteria provided, single submitter clinical testing The variant is found in EPILEPSY,CHILD-EPI panel(s).
Genetic Services Laboratory, University of Chicago RCV000188817 SCV000248794 uncertain significance not specified 2014-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512945 SCV001720446 benign Early infantile epileptic encephalopathy with suppression bursts 2023-07-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539751 SCV004762963 likely benign SCN1A-related disorder 2022-11-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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