Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000429591 | SCV000526099 | likely benign | not specified | 2016-04-12 | 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. |
Invitae | RCV000938495 | SCV001084306 | likely benign | Propionic acidemia | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002521719 | SCV003547240 | uncertain significance | Inborn genetic diseases | 2021-11-19 | criteria provided, single submitter | clinical testing | The c.1285-4C>T intronic alteration consists of a C to T substitution 4 nucleotides before coding exon 15 in the PCCA gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |