Submissions for variant NM_002900.3(RBP3):c.1037G>A (p.Arg346His)

gnomAD frequency: 0.00786  dbSNP: rs111245635

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000947248	SCV001093420	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103798	SCV001260605	benign	Retinitis pigmentosa	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Mendelics	RCV001723760	SCV002519875	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000947248	SCV004127632	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	RBP3: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000947248	SCV005319328	benign	not provided		criteria provided, single submitter	not provided
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000206981	SCV000244046	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+	RCV001723760	SCV001956515	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000947248	SCV001974383	likely benign	not provided		no assertion criteria provided	clinical testing