Submissions for variant NM_002900.3(RBP3):c.1795A>G (p.Ile599Val)

gnomAD frequency: 0.00126  dbSNP: rs144289912

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000371593	SCV000341635	uncertain significance	not provided	2016-06-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000371593	SCV001235302	likely benign	not provided	2025-01-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001105649	SCV001262634	uncertain significance	Retinitis pigmentosa	2017-07-27	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000371593	SCV002821504	uncertain significance	not provided	2022-10-01	criteria provided, single submitter	clinical testing	RBP3: PP4
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000206927	SCV000244059	uncertain significance	Retinitis pigmentosa 66	2013-06-27	no assertion criteria provided	literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000371593	SCV001952610	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000371593	SCV001968154	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917725	SCV004731106	likely benign	RBP3-related disorder	2023-11-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004816319	SCV005068749	uncertain significance	Retinal dystrophy	2023-01-01	no assertion criteria provided	clinical testing