ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.197A>G (p.Gln66Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003484582 SCV004229141 likely pathogenic Retinitis pigmentosa 3 2023-08-21 criteria provided, single submitter clinical testing
GeneDx RCV004721197 SCV005327245 uncertain significance not provided 2023-07-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28838317)

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