ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.402+16A>G

gnomAD frequency: 0.00050  dbSNP: rs373582392
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001641218 SCV001859477 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072981 SCV002448922 benign Intellectual disability, autosomal dominant 20 2025-01-28 criteria provided, single submitter clinical testing

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