Submissions for variant NM_030665.4(RAI1):c.4311T>C (p.Pro1437=)

gnomAD frequency: 0.11504  dbSNP: rs4925112

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082268	SCV000114217	benign	not specified	2014-12-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082268	SCV000314717	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000576319	SCV000677441	benign	Smith-Magenis syndrome	2017-05-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311722	SCV000846282	benign	Inborn genetic diseases	2016-04-15	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	RCV001596955	SCV001831647	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV001596955	SCV002434292	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082268	SCV000152453	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.