ClinVar Miner

Submissions for variant NM_052874.5(STX1B):c.861C>A (p.Gly287=)

dbSNP: rs775117894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001592776 SCV001823371 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV002573359 SCV003256595 likely benign Generalized epilepsy with febrile seizures plus, type 9 2023-05-25 criteria provided, single submitter clinical testing

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