Submissions for variant NM_030665.4(RAI1):c.195G>A (p.Thr65=)

gnomAD frequency: 0.00003  dbSNP: rs377342940

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000387690	SCV000344523	uncertain significance	not provided	2016-08-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000387690	SCV002412164	likely benign	not provided	2025-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418135	SCV002722137	likely benign	Inborn genetic diseases	2017-09-29	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.
PreventionGenetics, part of Exact Sciences	RCV003910036	SCV004721071	likely benign	RAI1-related disorder	2020-07-10	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).