Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235619 | SCV001070512 | likely benign | Wolman disease | 2023-10-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002445033 | SCV002683288 | likely benign | Cardiovascular phenotype | 2022-09-10 | 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 |
RCV004533562 | SCV004715392 | likely benign | LIPA-related disorder | 2021-04-22 | 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, |
RCV000924984 | SCV001453542 | likely benign | Lysosomal acid lipase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |