Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318022 | SCV000849617 | benign | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2017-05-15 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Invitae | RCV000873690 | SCV001015733 | benign | Lowe syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477661 | SCV002795643 | likely benign | Dent disease type 2; Lowe syndrome | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945752 | SCV004763084 | likely benign | OCRL-related condition | 2019-04-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |