ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.2077G>A (p.Val693Met)

gnomAD frequency: 0.00857  dbSNP: rs112888313
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973192 SCV001120933 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001103699 SCV001260491 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.
Breakthrough Genomics, Breakthrough Genomics RCV000973192 SCV005319327 benign not provided criteria provided, single submitter not provided
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206904 SCV000244064 uncertain significance Retinitis pigmentosa 66 2013-06-27 no assertion criteria provided literature only

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