ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)

gnomAD frequency: 0.04663  dbSNP: rs3213758
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000114220 SCV000171385 benign not specified 2014-01-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000114220 SCV000312479 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291008 SCV000397742 benign Nephronophthisis 8 2018-03-06 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 RCV000343585 SCV000397743 benign Joubert syndrome 7 2018-03-06 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 RCV000388776 SCV000397744 benign Meckel syndrome, type 5 2018-03-06 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 RCV001083706 SCV001000624 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000343585 SCV001761507 benign Joubert syndrome 7 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000388776 SCV001761508 benign Meckel syndrome, type 5 2021-07-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000114220 SCV002050983 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000127803 SCV005216436 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000114220 SCV000147777 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000127803 SCV000172624 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Natera, Inc. RCV001271269 SCV001452342 benign Familial aplasia of the vermis 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000114220 SCV001931624 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000114220 SCV001968876 benign not specified no assertion criteria provided clinical testing

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