Submissions for variant NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)

gnomAD frequency: 0.00063  dbSNP: rs142415050

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153805	SCV000203384	likely benign	not specified	2014-11-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000153805	SCV000248666	likely benign	not specified	2014-12-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313000	SCV000849272	likely benign	Inborn genetic diseases	2017-03-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Mendelics	RCV000989764	SCV001140317	benign	Smith-Magenis syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001701623	SCV002408540	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000989764	SCV002804402	likely benign	Smith-Magenis syndrome	2022-01-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001701623	SCV004142354	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	RAI1: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003937434	SCV004754574	likely benign	RAI1-related condition	2019-08-26	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701623	SCV001928961	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701623	SCV001971945	likely benign	not provided		no assertion criteria provided	clinical testing