ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1227A>G (p.Val409=)

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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 RCV003423733 SCV004155701 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing RELN: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003778442 SCV004576334 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-02-13 criteria provided, single submitter clinical testing

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