Submissions for variant NM_000321.3(RB1):c.42C>T (p.Ala14=)

gnomAD frequency: 0.00162  dbSNP: rs148980395

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000230089	SCV000284627	benign	Retinoblastoma	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000230089	SCV000384533	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	RCV000422313	SCV000521693	likely benign	not specified	2017-08-25	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	RCV000492403	SCV000580840	likely benign	Hereditary cancer-predisposing syndrome	2019-01-17	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	RCV000858032	SCV001149012	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	RB1: BP4, BP7
Sema4, Sema4	RCV000492403	SCV002530850	likely benign	Hereditary cancer-predisposing syndrome	2021-06-24	criteria provided, single submitter	curation
Color Diagnostics, LLC DBA Color Health	RCV000230089	SCV004357190	benign	Retinoblastoma	2022-04-13	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000230089	SCV004846296	benign	Retinoblastoma	2024-02-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000858032	SCV001808897	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000858032	SCV001968419	likely benign	not provided		no assertion criteria provided	clinical testing