ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8051G>A (p.Arg2684His)

gnomAD frequency: 0.00004  dbSNP: rs201157987
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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 RCV001213158 SCV001384775 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-07-07 criteria provided, single submitter clinical testing
New York Genome Center RCV001213158 SCV002548945 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2021-05-27 criteria provided, single submitter clinical testing

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