ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu)

gnomAD frequency: 0.48811  dbSNP: rs6571751
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254473 SCV000313496 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268509 SCV000385395 benign Cone-rod dystrophy 13 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.
Illumina Laboratory Services, Illumina RCV000323616 SCV000385396 benign Leber congenital amaurosis 6 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 RCV001511544 SCV001718813 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000086258 SCV001857967 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000323616 SCV002033747 benign Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000268509 SCV002033748 benign Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Retina International RCV000086258 SCV000118404 not provided not provided no assertion provided not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000254473 SCV001743837 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000254473 SCV001954018 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000254473 SCV001971965 benign not specified no assertion criteria provided clinical testing

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