ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.9948A>G (p.Gln3316=)

gnomAD frequency: 0.00001  dbSNP: rs141930548
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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 RCV001451309 SCV001654936 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-08-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540359 SCV004768202 likely benign RELN-related disorder 2022-09-19 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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