ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.759A>G (p.Pro253=)

gnomAD frequency: 0.00006  dbSNP: rs368575766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179847 SCV000232162 uncertain significance not provided 2014-07-15 criteria provided, single submitter clinical testing
Invitae RCV000648314 SCV000770128 likely benign Intellectual disability, autosomal dominant 20 2023-12-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895203 SCV004717713 likely benign MEF2C-related condition 2023-04-20 criteria provided, single submitter 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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