ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.2442A>G (p.Ser814=)

gnomAD frequency: 0.00001  dbSNP: rs759128344
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310592 SCV001500455 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing RELN: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV001418899 SCV001621142 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-05-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820005 SCV002069840 likely benign not specified 2019-10-02 criteria provided, single submitter clinical testing

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