Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598286 | SCV000702239 | uncertain significance | not provided | 2018-08-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001507214 | SCV001052054 | benign | Wolman disease | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000598286 | SCV001817656 | likely benign | not provided | 2021-04-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377226 | SCV002624165 | likely benign | Cardiovascular phenotype | 2022-04-20 | 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. |
Natera, |
RCV001083196 | SCV001456944 | likely benign | Lysosomal acid lipase deficiency | 2020-04-11 | no assertion criteria provided | clinical testing |