Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NEI Ophthalmic Genomics Laboratory, |
RCV001250328 | SCV001424648 | likely pathogenic | Stargardt disease | 2020-01-07 | criteria provided, single submitter | clinical testing | The variant NM_000322.4:c.478C>T in the PRPH2 gene has been previously studied(PMID 30718709). We found this variant in 1 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (CM192562). It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PM2] and classified NM_000322.4:c.478C>T in the PRPH2 gene as a Likely Pathogenic mutation. |
Department of Clinical Genetics, |
RCV000787662 | SCV000926651 | likely pathogenic | Retinal dystrophy | 2018-04-01 | no assertion criteria provided | research | |
Leiden Open Variation Database | RCV001530345 | SCV001745143 | pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |