ClinVar Miner

Submissions for variant NM_012301.4(MAGI2):c.219C>T (p.Pro73=)

gnomAD frequency: 0.00143  dbSNP: rs148240352
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117566 SCV000151785 uncertain significance not provided 2012-11-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000173431 SCV000224546 likely benign not specified 2014-09-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000117566 SCV001001116 likely benign not provided 2023-10-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000117566 SCV001144468 benign not provided 2019-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000117566 SCV004162348 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing MAGI2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003952572 SCV004767392 likely benign MAGI2-related disorder 2019-10-14 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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