Submissions for variant NM_000321.3(RB1):c.608-4del

dbSNP: rs762805947

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000363829	SCV000384538	likely benign	Retinoblastoma	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574026	SCV000674708	likely benign	Hereditary cancer-predisposing syndrome	2020-07-06	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.
GeneDx	RCV000843883	SCV000985928	likely benign	not provided	2018-03-29	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen	RCV000843883	SCV001961411	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	RB1: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000363829	SCV002435249	benign	Retinoblastoma	2024-01-28	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000574026	SCV002530859	likely benign	Hereditary cancer-predisposing syndrome	2021-01-10	criteria provided, single submitter	curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002469125	SCV002766017	benign	not specified	2022-11-03	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000363829	SCV004819162	benign	Retinoblastoma	2024-02-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003940208	SCV004750591	likely benign	RB1-related disorder	2021-12-24	no assertion criteria provided	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).