ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.4041C>T (p.Cys1347=)

gnomAD frequency: 0.00001  dbSNP: rs762723785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092663 SCV001249274 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001439297 SCV001642182 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-10-13 criteria provided, single submitter clinical testing

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