ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr)

gnomAD frequency: 0.00001  dbSNP: rs797045703
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193723 SCV000248039 likely benign not specified 2015-07-20 criteria provided, single submitter clinical testing
Invitae RCV001340866 SCV001534700 benign Intellectual disability, autosomal dominant 20 2022-09-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430745 SCV004159089 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing MEF2C: PM2, PP2

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