ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1277G>A (p.Ser426Asn)

gnomAD frequency: 0.00001  dbSNP: rs568950079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194394 SCV000248693 uncertain significance not specified 2015-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000653012 SCV000774886 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-22 criteria provided, single submitter clinical testing

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