ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.2532G>A (p.Pro844=)

gnomAD frequency: 0.00016  dbSNP: rs113842330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517706 SCV000614862 likely benign not specified 2017-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872439 SCV001014251 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2025-01-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000517706 SCV002069839 likely benign not specified 2017-10-13 criteria provided, single submitter clinical testing

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