Submissions for variant NM_002900.3(RBP3):c.1631G>A (p.Arg544His)

gnomAD frequency: 0.00297  dbSNP: rs41284962

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080036	SCV000111930	benign	not specified	2014-11-08	criteria provided, single submitter	clinical testing
Invitae	RCV000966384	SCV001113700	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000966384	SCV001249003	likely benign	not provided	2020-01-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001106782	SCV001263878	uncertain significance	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. 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.
PreventionGenetics, part of Exact Sciences	RCV003974966	SCV004794653	likely benign	RBP3-related condition	2020-10-14	criteria provided, single submitter	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).
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000206963	SCV000244057	uncertain significance	Retinitis pigmentosa 66	2013-06-27	no assertion criteria provided	literature only