ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.[1787G>C;746C>T]

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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 RCV001376301 SCV001573395 likely pathogenic Rod-cone dystrophy 2021-04-08 criteria provided, single submitter research The INPP5E c.[746C>T; 1787G>C] 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: PM1, PM2, PP3, PP1. Based on this evidence we have classified this variant as Likely Pathogenic.

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