Submissions for variant NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn)

gnomAD frequency: 0.00014  dbSNP: rs147844401

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000503651	SCV000596716	uncertain significance	not specified	2016-10-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316445	SCV000850672	benign	Inborn genetic diseases	2019-02-09	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.
Fulgent Genetics, Fulgent Genetics	RCV000765339	SCV000896602	uncertain significance	Smith-Magenis syndrome	2018-10-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001584218	SCV001819789	likely benign	not provided	2021-03-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24205348, 21857958)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001584218	SCV002404655	benign	not provided	2023-12-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902790	SCV004718326	likely benign	RAI1-related disorder	2023-09-05	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).