ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) (rs267606821)

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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 RCV000001935 SCV001573429 likely pathogenic Posterior column ataxia-retinitis pigmentosa syndrome 2021-04-08 criteria provided, single submitter research The FLVCR1 c.574T>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: PM2, PM3, PP1-S. Based on this evidence we have classified this variant as Likely Pathogenic.
OMIM RCV000001935 SCV000022093 pathogenic Posterior column ataxia-retinitis pigmentosa syndrome 2010-11-12 no assertion criteria provided literature only

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