Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470096 | SCV000541428 | likely benign | Werner syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000470096 | SCV000895914 | uncertain significance | Werner syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591059 | SCV001816864 | uncertain significance | not provided | 2023-06-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with head and neck cancer (Cury et al., 2021); This variant is associated with the following publications: (PMID: 30404791, 30019023, 29641532, 32041611, 34598035) |
Baylor Genetics | RCV000470096 | SCV004208903 | uncertain significance | Werner syndrome | 2022-04-27 | criteria provided, single submitter | clinical testing |