ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.585C>T (p.Asn195=)

gnomAD frequency: 0.00001  dbSNP: rs398123686
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723585 SCV000111899 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146363 SCV000193647 uncertain significance Intellectual disability, autosomal dominant 20 2014-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000723585 SCV000728742 likely benign not provided 2021-02-16 criteria provided, single submitter clinical testing
Invitae RCV000146363 SCV001057422 likely benign Intellectual disability, autosomal dominant 20 2023-12-07 criteria provided, single submitter clinical testing

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