Submissions for variant NM_030665.4(RAI1):c.1894C>T (p.Leu632=)

gnomAD frequency: 0.01318  dbSNP: rs61736754

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002312802	SCV000847303	benign	Inborn genetic diseases	2016-06-23	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	RCV001510201	SCV001717183	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001510201	SCV001942167	benign	not provided	2018-12-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002507254	SCV002802626	likely benign	Smith-Magenis syndrome	2022-05-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001510201	SCV005248522	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003980338	SCV004799476	benign	RAI1-related disorder	2019-05-08	no assertion criteria provided	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).