ClinVar Miner

Submissions for variant NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=)

gnomAD frequency: 0.02550  dbSNP: rs117054456
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081539 SCV000113470 benign not specified 2018-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081539 SCV000151793 benign not specified 2012-09-05 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000081539 SCV000614039 benign not specified 2017-06-29 criteria provided, single submitter clinical testing
GeneDx RCV001753483 SCV002007085 likely benign not provided 2021-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001753483 SCV002367481 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001753483 SCV005220425 likely benign not provided criteria provided, single submitter not provided

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