ClinVar Miner

Submissions for variant NM_001131005.2(MEF2C):c.68A>G (p.Lys23Arg) (rs797045053)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000191104 SCV000245505 likely pathogenic Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 2014-07-28 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in an 18-year-old female with intellectual disability, mixed tone, quadriparesis, sialorrhea, intractable seizures, dysmorphisms, osteopenia, microcephaly
GenomeConnect, ClinGen RCV000191104 SCV000607110 not provided Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations no assertion provided phenotyping only 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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