Submissions for variant NM_030665.4(RAI1):c.972G>A (p.Pro324=)

gnomAD frequency: 0.00103  dbSNP: rs138675466

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082279	SCV000114228	benign	not specified	2013-04-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001647065	SCV001855802	benign	not provided	2020-12-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001647065	SCV002334753	benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002371931	SCV002692245	likely benign	Inborn genetic diseases	2017-06-21	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.
Genetic Services Laboratory, University of Chicago	RCV000082279	SCV003839943	benign	not specified	2022-11-06	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915102	SCV004736461	likely benign	RAI1-related disorder	2019-08-27	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).