ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.-208del

dbSNP: rs886060864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal RCV000490253 SCV000243947 uncertain significance not specified 2015-08-01 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV000359333 SCV000459080 uncertain significance Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 2016-06-14 criteria provided, single submitter clinical testing
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal RCV000490443 SCV000243946 uncertain significance Frontotemporal dementia 2015-08-01 flagged submission research

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