ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)

gnomAD frequency: 0.00322  dbSNP: rs138155747
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174130 SCV000225375 likely benign not specified 2014-08-15 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000223981 SCV000280793 benign not provided 2016-01-06 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000174130 SCV000312458 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000174130 SCV000514414 benign not specified 2017-11-09 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000174130 SCV000540220 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency + variant associated with BBS
Invitae RCV001082949 SCV001000656 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000223981 SCV001150923 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing RPGRIP1L: BP4, BS2
Illumina Laboratory Services, Illumina RCV001120841 SCV001279351 uncertain significance Meckel syndrome, type 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genetic Services Laboratory, University of Chicago RCV000174130 SCV002070312 likely benign not specified 2020-09-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271335 SCV001452420 benign Familial aplasia of the vermis 2019-12-28 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000174130 SCV001921619 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000223981 SCV001969000 likely benign not provided no assertion criteria provided clinical testing

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