ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7568A>G (p.Asn2523Ser)

gnomAD frequency: 0.00003  dbSNP: rs561828305
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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 RCV001874159 SCV002123226 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-08-30 criteria provided, single submitter clinical testing
GeneDx RCV003235605 SCV003933177 uncertain significance not provided 2022-12-15 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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