ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.695C>T (p.Ala232Val)

dbSNP: rs1800113364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001547136 SCV001766770 uncertain significance not provided 2019-09-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV003324565 SCV004030277 likely pathogenic Retinal dystrophy 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0

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