Submissions for variant NM_030665.4(RAI1):c.4530C>T (p.Pro1510=)

gnomAD frequency: 0.09361  dbSNP: rs35686634

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082270	SCV000114219	benign	not specified	2014-12-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082270	SCV000314718	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000576515	SCV000677442	benign	Smith-Magenis syndrome	2017-05-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311723	SCV000846280	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: 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	RCV001709485	SCV001937637	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001709485	SCV002462585	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001709485	SCV005248530	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000082270	SCV000152455	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.