ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)

gnomAD frequency: 0.00854  dbSNP: rs139974543
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000081727 SCV000113658 benign not specified 2013-04-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081727 SCV000147776 benign not specified 2013-07-22 criteria provided, single submitter clinical testing
GeneDx RCV000081727 SCV000171384 benign not specified 2014-04-15 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,PreventionGenetics RCV000081727 SCV000312477 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000459406 SCV000556992 benign Joubert syndrome; Meckel-Gruber syndrome 2021-12-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001120443 SCV001278927 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services,Illumina RCV001120444 SCV001278928 likely benign Joubert syndrome 7 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services,Illumina RCV001120445 SCV001278929 likely benign Nephronophthisis 8 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000081727 SCV002050980 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001795147 SCV002497916 benign not provided 2022-08-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271271 SCV001452344 benign Joubert syndrome 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000081727 SCV002033862 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795147 SCV002036470 likely benign not provided no assertion criteria provided clinical testing

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