Submissions for variant NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu)

gnomAD frequency: 0.00006  dbSNP: rs374187267

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000594871	SCV000707629	uncertain significance	not provided	2017-04-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000594871	SCV002408691	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002456310	SCV002615293	likely benign	Inborn genetic diseases	2021-09-01	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	RCV003952994	SCV004773304	benign	RAI1-related disorder	2023-12-07	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).