Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000762587 | SCV000892920 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | COL5A1: BS2 |
Labcorp Genetics |
RCV002234126 | SCV001214428 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000762587 | SCV001804116 | uncertain significance | not provided | 2023-11-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); This variant is associated with the following publications: (PMID: 22696272, 32024714) |