Submissions for variant NM_000240.4(MAOA):c.385A>C (p.Arg129=)

gnomAD frequency: 0.17743  dbSNP: rs1800464

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000117593	SCV000230051	benign	not specified	2014-06-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312183	SCV000846138	benign	Inborn genetic diseases	2015-07-12	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514031	SCV001721776	benign	Brunner syndrome	2025-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001514031	SCV002014103	benign	Brunner syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004713288	SCV005277605	benign	not provided		criteria provided, single submitter	not provided
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.