ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser)

gnomAD frequency: 0.00300  dbSNP: rs114807343
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153825 SCV000203406 benign not specified 2014-02-07 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000420283 SCV000511863 likely benign not provided 2016-09-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000420283 SCV000514399 likely benign not provided 2022-01-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083070 SCV000656327 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2025-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000420283 SCV001155199 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing RELN: BS2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003992200 SCV004809824 benign Norman-Roberts syndrome 2024-04-04 criteria provided, single submitter clinical testing

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