Submissions for variant NM_030665.4(RAI1):c.834GCA[12] (p.Gln291del)

dbSNP: rs371983878

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177381	SCV000229230	benign	not specified	2015-02-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000177381	SCV000248674	benign	not specified	2014-05-27	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000177381	SCV000258206	benign	not specified	2015-10-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312723	SCV000846275	benign	Inborn genetic diseases	2016-08-26	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.
GeneDx	RCV001651044	SCV001870585	benign	not provided	2019-09-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001651044	SCV002412572	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV003993858	SCV004812785	benign	Smith-Magenis syndrome	2023-05-04	criteria provided, single submitter	clinical testing	African/African American population allele frequency is 30.36% (rs74986416, 1586/5010 alleles, 148 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.4.0, this variant is classified as BENIGN. Following criteria are met: BA1
PreventionGenetics, part of Exact Sciences	RCV003891731	SCV000314725	benign	RAI1-related disorder	2022-07-19	no assertion criteria provided	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).