ClinVar Miner

Submissions for variant NM_012301.4(MAGI2):c.2379C>T (p.Leu793=)

gnomAD frequency: 0.00966  dbSNP: rs73703715
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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 Inc RCV000712251 SCV000842696 benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Invitae RCV000712251 SCV001001231 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000712251 SCV002004713 likely benign not provided 2021-03-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905122 SCV004733371 benign MAGI2-related condition 2019-07-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago RCV000117569 SCV000151788 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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