Submissions for variant NM_000321.3(RB1):c.2455C>G (p.Leu819Val)

dbSNP: rs375751988

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000539011	SCV000629309	benign	Retinoblastoma	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000562044	SCV000674703	likely benign	Hereditary cancer-predisposing syndrome	2018-05-31	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.
Sema4, Sema4	RCV000562044	SCV002530828	benign	Hereditary cancer-predisposing syndrome	2021-09-07	criteria provided, single submitter	curation
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153682	SCV003843392	benign	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942743	SCV004759260	likely benign	RB1-related disorder	2020-04-20	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).