Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000839081 | SCV000980963 | likely benign | not provided | 2018-05-08 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001391315 | SCV001013655 | likely benign | Citrullinemia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002538286 | SCV003565586 | likely benign | Inborn genetic diseases | 2021-10-11 | 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. |
Breakthrough Genomics, |
RCV000839081 | SCV005225859 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Natera, |
RCV001084710 | SCV001457307 | benign | Citrullinemia type I | 2020-04-13 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003928307 | SCV004753828 | benign | ASS1-related disorder | 2019-11-14 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |