Submissions for variant NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg)

gnomAD frequency: 0.00062  dbSNP: rs147091667

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000512918	SCV000608810	uncertain significance	not provided	2017-04-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000512918	SCV000702360	uncertain significance	not provided	2016-11-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316454	SCV000850874	likely benign	Inborn genetic diseases	2017-04-27	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.
GeneDx	RCV000512918	SCV001829612	likely benign	not provided	2020-06-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000512918	SCV002409153	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925515	SCV004742070	likely benign	RAI1-related disorder	2019-09-19	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).