ClinVar Miner

Submissions for variant NM_012301.4(MAGI2):c.2142G>A (p.Pro714=)

gnomAD frequency: 0.00156  dbSNP: rs144574076
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174365 SCV000225653 uncertain significance not provided 2015-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000174365 SCV001099608 benign not provided 2024-12-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998369 SCV005621568 benign not specified 2024-03-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947472 SCV004774195 likely benign MAGI2-related disorder 2022-07-14 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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