ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5880A>G (p.Thr1960=)

gnomAD frequency: 0.00105  dbSNP: rs362793
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517021 SCV000614873 likely benign not specified 2017-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000542005 SCV000656325 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310588 SCV001500451 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing RELN: BP4, BP7
GeneDx RCV001310588 SCV001753787 likely benign not provided 2020-04-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541616 SCV004768500 likely benign RELN-related disorder 2020-02-05 no assertion criteria provided 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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