Submissions for variant NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)

gnomAD frequency: 0.00026  dbSNP: rs370633684

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082262	SCV000114211	uncertain significance	not provided	2015-01-26	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197716	SCV001368495	benign	Smith-Magenis syndrome	2018-11-07	criteria provided, single submitter	clinical testing	This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2,A.
Baylor Genetics	RCV001197716	SCV001527087	uncertain significance	Smith-Magenis syndrome	2018-02-01	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp	RCV000082262	SCV002372319	likely benign	not provided	2025-01-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321580	SCV002609355	likely benign	Inborn genetic diseases	2018-04-02	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.
Laboratory of Prof. Karen Avraham, Tel Aviv University	RCV001197716	SCV005073791	likely pathogenic	Smith-Magenis syndrome	2024-06-05	criteria provided, single submitter	research	Likely pathogenic by Deafness Variation Database based on PMID: 21857958.
PreventionGenetics, part of Exact Sciences	RCV003905069	SCV004724858	likely benign	RAI1-related disorder	2020-02-04	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).