ClinVar Miner

Submissions for variant NM_012301.4(MAGI2):c.2454C>T (p.Arg818=)

gnomAD frequency: 0.00081  dbSNP: rs148580718
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174916 SCV000226316 uncertain significance not provided 2015-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000174916 SCV001001773 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917619 SCV004736142 likely benign MAGI2-related disorder 2019-05-14 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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