Submissions for variant NM_000321.3(RB1):c.1961-12T>C

gnomAD frequency: 0.00104  dbSNP: rs201697122

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000234127	SCV000284617	benign	Retinoblastoma	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000352938	SCV000341205	benign	not specified	2016-04-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000234127	SCV000384552	benign	Retinoblastoma	2018-03-06	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000352938	SCV000540157	likely benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Published in 1 proband; No change to splice consensus; In vitro assay shows no impact to splicing; ExAC: 0.2% (158/66724) European chromosomes
GeneDx	RCV001722212	SCV000730341	likely benign	not provided	2021-05-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15605413, 18000883)
CeGaT Center for Human Genetics Tuebingen	RCV001722212	SCV001961412	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	RB1: BS1
Sema4, Sema4	RCV002256132	SCV002530813	benign	Hereditary cancer-predisposing syndrome	2020-10-20	criteria provided, single submitter	curation
Color Diagnostics, LLC DBA Color Health	RCV000234127	SCV004357205	benign	Retinoblastoma	2022-05-02	criteria provided, single submitter	clinical testing