ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp)

gnomAD frequency: 0.00022  dbSNP: rs144387303
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000375101 SCV000338197 uncertain significance not provided 2018-01-22 criteria provided, single submitter clinical testing
Invitae RCV000692251 SCV000820065 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-19 criteria provided, single submitter clinical testing
New York Genome Center RCV001420612 SCV001622935 uncertain significance Familial temporal lobe epilepsy 7 2020-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000375101 SCV002007861 uncertain significance not provided 2019-07-31 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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