ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5019C>A (p.Ser1673Arg)

gnomAD frequency: 0.00012  dbSNP: rs370258062
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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 RCV001056040 SCV001220459 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-10-16 criteria provided, single submitter clinical testing
GeneDx RCV003236862 SCV003935714 uncertain significance not provided 2023-06-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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