ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys)

gnomAD frequency: 0.00158  dbSNP: rs202110498
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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 RCV000389130 SCV000471243 benign Occult macular dystrophy 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 RCV000892343 SCV001036207 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000389130 SCV001137586 likely benign Occult macular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000892343 SCV001245751 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing RP1L1: BS2
Dept Of Ophthalmology, Nagoya University RCV003888885 SCV004705989 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Clinical Genetics, Academic Medical Center RCV000892343 SCV001918829 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000892343 SCV001955646 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000892343 SCV001975400 likely benign not provided no assertion criteria provided clinical testing

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