ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6875G>A (p.Arg2292His)

gnomAD frequency: 0.00004  dbSNP: rs565382144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539636 SCV000656342 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-06-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003485604 SCV004236574 uncertain significance Norman-Roberts syndrome 2023-11-20 criteria provided, single submitter clinical testing

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