ClinVar Miner

Submissions for variant NM_002397.4(MEF2C):c.-510_-497delTCTTCCTCCTCCTC

dbSNP: rs1085307051
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Total submissions: 1
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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 RCV000490370 SCV000243945 likely pathogenic Frontotemporal dementia 2015-08-01 criteria provided, single submitter research

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