ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)

gnomAD frequency: 0.21425  dbSNP: rs446227
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081371 SCV000113302 benign not specified 2015-10-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286823 SCV000474198 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000132660 SCV001728893 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795143 SCV002033685 benign Retinitis pigmentosa 1 2021-11-07 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888440 SCV004706751 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV000132660 SCV005267794 benign not provided criteria provided, single submitter not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132660 SCV000172611 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Faculty of Health Sciences, Beirut Arab University RCV001257895 SCV001434663 pathogenic Autosomal recessive retinitis pigmentosa 2012-10-26 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081371 SCV001739822 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000081371 SCV001918726 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081371 SCV001953404 benign not specified no assertion criteria provided clinical testing

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