Submissions for variant NM_030665.4(RAI1):c.1524G>A (p.Thr508=)

gnomAD frequency: 0.00102  dbSNP: rs141826168

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194341	SCV000248656	uncertain significance	not specified	2015-02-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317702	SCV000850426	likely benign	Inborn genetic diseases	2017-03-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV001689729	SCV001908111	benign	not provided	2021-04-21	criteria provided, single submitter	clinical testing
Invitae	RCV001689729	SCV002354682	benign	not provided	2024-01-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001689729	SCV004142345	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	RAI1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003937713	SCV004755652	benign	RAI1-related condition	2020-10-26	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).