Submissions for variant NM_030665.4(RAI1):c.1992G>A (p.Pro664=)

gnomAD frequency: 0.58185  dbSNP: rs8067439

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082257	SCV000114206	benign	not specified	2014-12-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082257	SCV000314711	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000576577	SCV000677439	benign	Smith-Magenis syndrome	2017-05-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311719	SCV000846154	benign	Inborn genetic diseases	2016-03-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV001709484	SCV001937995	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000576577	SCV002033429	benign	Smith-Magenis syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Invitae	RCV001709484	SCV002348024	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082257	SCV000152448	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000082257	SCV001743997	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082257	SCV001957185	benign	not specified		no assertion criteria provided	clinical testing