ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6962C>T (p.Thr2321Met)

gnomAD frequency: 0.00064  dbSNP: rs116065504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528080 SCV000656344 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092661 SCV001249272 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952882 SCV004768033 likely benign RELN-related condition 2020-02-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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