ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=)

gnomAD frequency: 0.80304  dbSNP: rs348867
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388657 SCV000439550 benign Retinitis pigmentosa 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001517928 SCV001726536 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001517928 SCV001831499 benign not provided 2019-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730674 SCV001981012 benign Vitelliform macular dystrophy 5 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730673 SCV001981023 benign Retinitis pigmentosa 56 2021-08-19 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888818 SCV004705593 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529059 SCV001741871 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529059 SCV001954668 benign not specified no assertion criteria provided clinical testing

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