Submissions for variant NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp)

gnomAD frequency: 0.00073  dbSNP: rs150107747

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000366614	SCV000340644	likely benign	not specified	2016-04-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001683162	SCV001896140	benign	not provided	2020-04-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411162	SCV002723118	benign	Inborn genetic diseases	2017-09-21	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	RCV003105850	SCV003779949	benign	Coffin-Lowry syndrome; Intellectual disability, X-linked 19	2024-01-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004547715	SCV004718052	likely benign	RPS6KA3-related disorder	2021-08-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).