Submissions for variant NM_030665.4(RAI1):c.1142C>T (p.Ala381Val)

gnomAD frequency: 0.00400  dbSNP: rs113208290

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082255	SCV000114204	benign	not specified	2013-09-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082255	SCV000152447	benign	not specified	2015-09-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082255	SCV000314709	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000082255	SCV000515927	benign	not specified	2015-12-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV002313826	SCV000847985	benign	Inborn genetic diseases	2016-05-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055222	SCV002495306	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002477241	SCV002795088	likely benign	Smith-Magenis syndrome	2021-10-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002055222	SCV004142342	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	RAI1: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV002055222	SCV005248079	benign	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082255	SCV001955498	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000082255	SCV001966224	benign	not specified		no assertion criteria provided	clinical testing