Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000311089 | SCV000342890 | uncertain significance | not provided | 2016-06-08 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002059245 | SCV002440217 | likely benign | Wolman disease | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374479 | SCV002685785 | likely benign | Cardiovascular phenotype | 2019-09-09 | 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. |