Submissions for variant NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser)

gnomAD frequency: 0.01619  dbSNP: rs56218010

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081153	SCV000113061	benign	not specified	2013-01-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081153	SCV000152549	benign	not specified	2012-12-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311624	SCV000846298	benign	Inborn genetic diseases	2016-04-26	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	RCV001522839	SCV001732455	benign	Coffin-Lowry syndrome; Intellectual disability, X-linked 19	2025-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001689627	SCV001913246	benign	not provided	2018-10-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001689627	SCV005274476	benign	not provided		criteria provided, single submitter	not provided