ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile)

gnomAD frequency: 0.64801  dbSNP: rs571391
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081790 SCV000113725 benign not specified 2013-08-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271863 SCV000439562 benign Retinitis pigmentosa 2018-01-12 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 RCV001517929 SCV001726537 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730509 SCV001981034 benign Vitelliform macular dystrophy 5 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730508 SCV001981046 benign Retinitis pigmentosa 56 2021-08-19 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888447 SCV004705606 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081790 SCV001743207 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081790 SCV001951393 benign not specified no assertion criteria provided clinical testing

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