ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) (rs2302677)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081723 SCV000113654 benign not specified 2013-09-10 criteria provided, single submitter clinical testing
GeneDx RCV000081723 SCV000171381 benign not specified 2014-01-31 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 RCV000081723 SCV000312461 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288192 SCV000397805 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345607 SCV000397806 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394341 SCV000397807 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461005 SCV000556989 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081723 SCV000147770 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.

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