ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.3265G>C (p.Asp1089His)

dbSNP: rs1574158109
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001799721 SCV002044290 uncertain significance not provided 2021-06-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028015 SCV001190779 uncertain significance Epilepsy, familial focal, with variable foci 4 2020-02-05 no assertion criteria provided clinical testing

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