Submissions for variant NM_000321.3(RB1):c.2406G>A (p.Gly802=)

dbSNP: rs866638680

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000550290	SCV000629307	likely benign	Retinoblastoma	2024-01-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001015430	SCV001176260	likely benign	Hereditary cancer-predisposing syndrome	2019-07-16	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.
CeGaT Center for Human Genetics Tuebingen	RCV003222019	SCV003917287	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	RB1: BP4, BP7
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000550290	SCV004017266	likely benign	Retinoblastoma	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003979949	SCV004789604	likely benign	RB1-related disorder	2019-04-24	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).
All of Us Research Program, National Institutes of Health	RCV000550290	SCV004844742	likely benign	Retinoblastoma	2023-08-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV003222019	SCV005215622	likely benign	not provided		criteria provided, single submitter	not provided