Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000442583 | SCV000512258 | likely benign | not specified | 2016-10-14 | 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. |
Labcorp Genetics |
RCV000970435 | SCV001118012 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002480283 | SCV002794646 | likely benign | Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 | 2021-10-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000970435 | SCV004033855 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | BCS1L: BP4, BP7 |