ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) (rs765327224)

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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 RCV001376432 SCV001573570 likely pathogenic Rod-cone dystrophy 2021-04-08 criteria provided, single submitter research The INPP5E c.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, PM3. Based on this evidence we have classified this variant as Likely Pathogenic.
Gharavi Laboratory,Columbia University RCV000723153 SCV000854284 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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