ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter)

dbSNP: rs200942439
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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 RCV001199314 SCV001370394 likely pathogenic Retinitis pigmentosa 1 2019-10-27 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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