ClinVar Miner

Submissions for variant NM_001048181.3(OPN1MW2):c.292G>A (p.Ala98Thr)

gnomAD frequency: 0.00002  dbSNP: rs782410634
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198129 SCV001368960 uncertain significance Deuteranomaly 2019-03-31 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PP2,PP3. This variant was detected in hemizygous state.

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