Submissions for variant NM_000321.3(RB1):c.411A>T (p.Glu137Asp)

gnomAD frequency: 0.00040  dbSNP: rs3092902

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000989108	SCV000284626	benign	Retinoblastoma	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570544	SCV000664578	likely benign	Hereditary cancer-predisposing syndrome	2018-08-27	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.
Mendelics	RCV000034596	SCV001139307	benign	not provided	2022-12-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000989108	SCV001271623	benign	Retinoblastoma	2018-10-09	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000034596	SCV001472180	likely benign	not provided	2020-04-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000034596	SCV001772964	likely benign	not provided	2021-03-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27153395, 15776430, 9311732, 15884040, 26933808, 25742471, 23810757, 27600092, 16546179, 20596833, 7981694, 7795591, 22703879, 17996702, 8364580)
Sema4, Sema4	RCV000570544	SCV002530849	likely benign	Hereditary cancer-predisposing syndrome	2020-10-21	criteria provided, single submitter	curation
Color Diagnostics, LLC DBA Color Health	RCV000989108	SCV004357194	benign	Retinoblastoma	2022-04-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952395	SCV004776324	likely benign	RB1-related disorder	2021-11-16	criteria provided, single submitter	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).
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine	RCV000989108	SCV005046378	likely benign	Retinoblastoma	2024-05-20	criteria provided, single submitter	clinical testing	Case and Pedigree Information: BILATERAL CASES:0, UNILATERAL CASES:1, TOTAL CASES:1, PEDIGREES:1. ACMG Codes Applied:BS1, BP6
CeGaT Center for Human Genetics Tuebingen	RCV000034596	SCV005093258	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	RB1: BP4
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034596	SCV000043463	variant of unknown significance	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Uncertain significance.