Submissions for variant NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val)

gnomAD frequency: 0.00066  dbSNP: rs142981643

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000431735	SCV000229227	uncertain significance	not provided	2014-11-23	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000431735	SCV000511123	likely benign	not provided	2017-01-24	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago	RCV000177378	SCV000596714	likely benign	not specified	2017-02-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312721	SCV000846202	likely benign	Inborn genetic diseases	2021-09-22	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.
GeneDx	RCV000431735	SCV001828137	benign	not provided	2020-06-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32032478)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000431735	SCV002371896	likely benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000431735	SCV004142367	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	RAI1: BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000431735	SCV001740941	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000431735	SCV001969068	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917650	SCV004732205	likely benign	RAI1-related disorder	2019-07-31	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).