ClinVar Miner

Submissions for variant NM_001131005.2(MEF2C):c.407del (p.Pro136fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000844906 SCV000986712 not provided Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 06/02/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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