ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7160C>T (p.Ser2387Leu)

gnomAD frequency: 0.00001  dbSNP: rs539045917
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503927 SCV000596759 uncertain significance not specified 2016-07-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727432 SCV000708514 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001312660 SCV001503122 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-03-04 criteria provided, single submitter clinical testing

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