Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653724 | SCV000775614 | likely benign | Brown-Vialetto-van Laere syndrome 1 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442357 | SCV002733813 | likely benign | Inborn genetic diseases | 2020-02-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Prevention |
RCV003918089 | SCV004729423 | likely benign | SLC52A3-related condition | 2019-08-14 | 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). |