Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001450053 | SCV001043224 | likely benign | Wolman disease | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390885 | SCV002700087 | likely benign | Cardiovascular phenotype | 2020-07-19 | 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. |
Prevention |
RCV004541876 | SCV004769423 | likely benign | LIPA-related disorder | 2021-06-21 | 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). |
Natera, |
RCV000898983 | SCV001456940 | uncertain significance | Lysosomal acid lipase deficiency | 2020-04-11 | no assertion criteria provided | clinical testing |