ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2708_2709del (p.His903fs)

dbSNP: rs1664767982
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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 RCV001198222 SCV001369092 likely pathogenic Pigmented paravenous retinochoroidal atrophy 2019-04-28 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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