Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502299 | SCV000596157 | uncertain significance | not specified | 2016-08-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002056860 | SCV002368990 | likely benign | Lowe syndrome | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004023389 | SCV003744259 | likely benign | Nephrolithiasis/nephrocalcinosis | 2022-02-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV003992307 | SCV004811712 | likely benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | OCRL: BS2 |
Prevention |
RCV004752922 | SCV005348178 | uncertain significance | OCRL-related disorder | 2024-09-24 | no assertion criteria provided | clinical testing | The OCRL c.50G>C variant is predicted to result in the amino acid substitution p.Gly17Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0061% of alleles in individuals of European (non-Finnish) descent in gnomAD, including 3 hemizygotes. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |