ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.180C>T (p.Thr60=)

gnomAD frequency: 0.00010  dbSNP: rs773278207
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000576232 SCV000676971 benign Intellectual disability, autosomal dominant 20 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315875 SCV000848782 likely benign Inborn genetic diseases 2016-03-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) RCV000728150 SCV000855686 likely benign not specified 2017-07-19 criteria provided, single submitter clinical testing
GeneDx RCV001619798 SCV001846056 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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