Submissions for variant NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln)

gnomAD frequency: 0.00060  dbSNP: rs141317462

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724405	SCV000229203	uncertain significance	not provided	2015-01-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000195005	SCV000248668	likely benign	not specified	2016-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000724405	SCV001838067	benign	not provided	2019-09-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000724405	SCV002425132	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336433	SCV002638154	likely benign	Inborn genetic diseases	2022-05-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV000724405	SCV005074556	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	RAI1: BS1
PreventionGenetics, part of Exact Sciences	RCV003917649	SCV004736784	likely benign	RAI1-related disorder	2020-01-20	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).