Submissions for variant NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del)

dbSNP: rs371983878

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000153798	SCV000152460	likely benign	not specified	2014-05-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000153798	SCV000203377	benign	not specified	2014-02-25	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000153798	SCV000297329	benign	not specified	2015-10-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891626	SCV000314723	benign	RAI1-related condition	2023-11-10	criteria provided, single submitter	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).
Ambry Genetics	RCV000715799	SCV000846630	likely benign	History of neurodevelopmental disorder	2017-04-17	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Other strong data supporting benign classification
GeneDx	RCV001573284	SCV001883051	benign	not provided	2019-08-27	criteria provided, single submitter	clinical testing
Invitae	RCV001573284	SCV002410696	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000153798	SCV001741254	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573284	SCV001798919	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573284	SCV001929637	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573284	SCV001975097	likely benign	not provided		no assertion criteria provided	clinical testing