ClinVar Miner

Submissions for variant NM_000240.3(MAOA):c.385A>C (p.Arg129=) (rs1800464)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715310 SCV000846138 benign History of neurodevelopmental disorder 2015-07-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117593 SCV000230051 benign not specified 2014-06-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117593 SCV000151819 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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