ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=)

gnomAD frequency: 0.55050  dbSNP: rs56382513
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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 RCV000265580 SCV000471049 benign Occult macular dystrophy 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.
GeneDx RCV001653730 SCV001870843 benign not provided 2019-07-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000265580 SCV002033691 benign Occult macular dystrophy 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795998 SCV002033692 benign Retinitis pigmentosa 88 2021-11-07 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888851 SCV004705795 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001653730 SCV005272248 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528907 SCV001741452 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528907 SCV001955770 benign not specified no assertion criteria provided clinical testing

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