ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.891C>G (p.Ser297Arg) (rs142285818)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626703 SCV000747406 pathogenic Exudative retinopathy; Retinal detachment; Cataract (disease); Nystagmus; Blindness; Rod-cone dystrophy; Progressive visual loss; Retinal exudate; Abnormality of retinal pigmentation; Unilateral strabismus; Optic disc drusen 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626703 SCV001368047 pathogenic Exudative retinopathy; Retinal detachment; Cataract (disease); Nystagmus; Blindness; Rod-cone dystrophy; Progressive visual loss; Retinal exudate; Abnormality of retinal pigmentation; Unilateral strabismus; Optic disc drusen 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. This variant was detected in heterozygous state.

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