ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1029-11C>G

gnomAD frequency: 0.00003  dbSNP: rs561758475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002155443 SCV002418444 likely benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-17 criteria provided, single submitter clinical testing
GeneDx RCV003120825 SCV003798724 likely benign not provided 2023-02-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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