ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1092C>T (p.Leu364=)

gnomAD frequency: 0.00001  dbSNP: rs142192165
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611457 SCV000727331 likely benign not specified 2018-02-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000712905 SCV000843457 likely benign not provided 2018-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001499246 SCV001704005 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-12-06 criteria provided, single submitter clinical testing

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