ClinVar Miner

Submissions for variant NM_001131005.2(MEF2C):c.108C>T (p.Ser36=) (rs143129901)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558715 SCV000650035 likely benign Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 2017-06-03 criteria provided, single submitter clinical testing

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