ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.4020_4021del (p.Glu1340fs)

dbSNP: rs760615743
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
School of Computer Science, University of Waterloo RCV001376185 SCV001573236 pathogenic Retinitis pigmentosa 88 2021-05-06 criteria provided, single submitter clinical testing Evidence categories PVS1, PM2 and PM4 in ACMG guidelines. This is a frameshift variant in gene RP1L1 that disrupts the protein NP_849188.4:p.Glu1340fs.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005361579 SCV005914689 uncertain significance Occult macular dystrophy; Retinitis pigmentosa 88 2023-04-03 criteria provided, single submitter research

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