Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000923092 | SCV001068553 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000923092 | SCV001474849 | uncertain significance | not provided | 2020-04-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000923092 | SCV004012387 | uncertain significance | not provided | 2023-06-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain at the Y position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the Y position is not a common mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001274061 | SCV001457791 | likely benign | Alport syndrome | 2020-05-02 | no assertion criteria provided | clinical testing |