Submissions for variant NM_000321.3(RB1):c.1967G>A (p.Arg656Gln)

gnomAD frequency: 0.00007  dbSNP: rs202031219

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000476165	SCV000562092	benign	Retinoblastoma	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001013867	SCV001174503	likely benign	Hereditary cancer-predisposing syndrome	2020-05-20	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.
Illumina Laboratory Services, Illumina	RCV000476165	SCV001270241	likely benign	Retinoblastoma	2017-04-27	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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Sema4, Sema4	RCV001013867	SCV002530816	likely benign	Hereditary cancer-predisposing syndrome	2021-12-18	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV004584724	SCV005074603	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	RB1: BS1