ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7943T>C (p.Leu2648Pro)

gnomAD frequency: 0.00002  dbSNP: rs566580675
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804362 SCV000944268 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2025-01-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003485646 SCV004236572 uncertain significance Norman-Roberts syndrome 2023-05-25 criteria provided, single submitter clinical testing

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