Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175581 | SCV000227093 | uncertain significance | not provided | 2014-08-11 | criteria provided, single submitter | clinical testing | |
NEI Ophthalmic Genomics Laboratory, |
RCV001250337 | SCV001424657 | uncertain significance | Stargardt disease | 2020-01-07 | criteria provided, single submitter | clinical testing | The variant NM_000322.4:c.725A>G in the PRPH2 gene has not been reported to our knowledge . 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 (rs542296728). It is present in gnomAD browser (AF 0.0004768). It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM2, PP3] and classified NM_000322.4:c.725A>G in the PRPH2 gene as a Variant of Uncertain Significance. |
Invitae | RCV001463523 | SCV001667469 | likely benign | PRPH2-Related Disorders | 2023-11-24 | criteria provided, single submitter | clinical testing | |
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation | RCV003389460 | SCV003927082 | likely pathogenic | Usher syndrome | 2022-12-31 | criteria provided, single submitter | research | |
Leiden Open Variation Database | RCV000175581 | SCV001745105 | uncertain significance | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |