ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2044-5dup

dbSNP: rs549232924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000824716 SCV000225572 uncertain significance not provided 2015-04-29 criteria provided, single submitter clinical testing
GeneDx RCV000190444 SCV000245323 benign not specified 2014-09-19 criteria provided, single submitter clinical testing The variant is found in INFANT-EPI panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV001080243 SCV000286276 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000824716 SCV002822709 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing SCN1A: BP4, BS1

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