ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.904G>A (p.Val302Ile)

gnomAD frequency: 0.00063  dbSNP: rs1805025
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598031 SCV000701223 benign not specified 2016-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000906866 SCV001051531 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000598031 SCV001157212 benign not specified 2018-09-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001121909 SCV001280564 benign Retinitis pigmentosa 37 2017-06-20 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.
Illumina Laboratory Services, Illumina RCV001121910 SCV001280565 benign Enhanced S-cone syndrome 2017-06-20 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). 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.
Dept Of Ophthalmology, Nagoya University RCV003889928 SCV004707846 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV000906866 SCV005295301 benign not provided criteria provided, single submitter not provided

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