ClinVar Miner

Submissions for variant NM_000240.3(MAOA):c.891G>T (p.Arg297=) (rs6323)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078415 SCV000110261 benign not specified 2015-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715347 SCV000846176 benign History of neurodevelopmental disorder 2015-06-22 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001513025 SCV001720557 benign Brunner syndrome 2020-12-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078415 SCV000151820 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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