ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7451T>C (p.Met2484Thr)

gnomAD frequency: 0.00001  dbSNP: rs1402071263
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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 RCV001042531 SCV001206214 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-04-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130114 SCV003813825 uncertain significance Norman-Roberts syndrome 2021-07-23 criteria provided, single submitter clinical testing

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