Submissions for variant NM_000321.3(RB1):c.1770T>C (p.Cys590=)

gnomAD frequency: 0.00062  dbSNP: rs145310579

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229449	SCV000284613	benign	Retinoblastoma	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000229449	SCV000384551	benign	Retinoblastoma	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000425326	SCV000533985	likely benign	not specified	2017-08-08	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.
Ambry Genetics	RCV000572893	SCV000674702	likely benign	Hereditary cancer-predisposing syndrome	2017-03-01	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	RCV003389713	SCV001149013	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	RB1: BP4, BP7, BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000425326	SCV001774652	benign	not specified	2021-07-31	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000572893	SCV002530804	benign	Hereditary cancer-predisposing syndrome	2021-09-15	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV000229449	SCV004844699	benign	Retinoblastoma	2024-02-05	criteria provided, single submitter	clinical testing