ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.1126C>T (p.Arg376Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376205 SCV001573262 likely pathogenic Retinitis pigmentosa 1 2021-04-08 criteria provided, single submitter research The RP1 c.1126C>T 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.

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