ClinVar Miner

Submissions for variant NM_001354768.3(NRL):c.713G>T (p.Ter238Leu)

gnomAD frequency: 0.00001  dbSNP: rs754136527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001535428 SCV001950302 uncertain significance Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Ter238LeuextTer58 variant in NRL was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PM2, PM4. Based on this evidence we have classified this variant as a Variant of Uncertain Significance. If you have any questions about the classification please reach out to the Pierce Lab.
Leeds Institute of Medical Research, University of Leeds RCV001535428 SCV001478096 pathogenic Retinitis pigmentosa 2021-01-15 no assertion criteria provided research

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