ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.2789T>C (p.Phe930Ser)

gnomAD frequency: 0.00003  dbSNP: rs747512816
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757527 SCV002007732 uncertain significance not provided 2020-02-17 criteria provided, single submitter clinical testing Not observed at a 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001868677 SCV002249051 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-11-13 criteria provided, single submitter clinical testing

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