Submissions for variant NM_000321.3(RB1):c.367A>G (p.Asn123Asp)

gnomAD frequency: 0.00010  dbSNP: rs149800437

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000525619	SCV000629328	benign	Retinoblastoma	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568188	SCV000674704	likely benign	Hereditary cancer-predisposing syndrome	2018-12-04	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	RCV000525619	SCV001271620	benign	Retinoblastoma	2017-09-20	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262454	SCV001440336	uncertain significance	Ovarian neoplasm	2019-01-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000568188	SCV002530847	benign	Hereditary cancer-predisposing syndrome	2021-01-13	criteria provided, single submitter	curation