ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.1498_1499del (p.Met500fs) (rs765129639)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376315 SCV001573417 likely pathogenic Retinitis pigmentosa 1 2021-04-08 criteria provided, single submitter research The RP1 c.1498_1499del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504978 SCV000598679 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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