ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2016+10A>G

gnomAD frequency: 0.00001  dbSNP: rs886042771
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725379 SCV000336472 uncertain significance not provided 2015-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000283363 SCV000529770 likely benign not specified 2016-07-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001461701 SCV001665608 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-03-05 criteria provided, single submitter clinical testing

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