Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000870968 | SCV001012549 | benign | Hypohidrotic X-linked ectodermal dysplasia | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003225133 | SCV003921734 | uncertain significance | not provided | 2023-04-26 | criteria provided, single submitter | clinical testing | Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 9683615, 11279189, 20486090, 27054699, 24077912, 26582918) |
Natera, |
RCV000870968 | SCV002087201 | likely benign | Hypohidrotic X-linked ectodermal dysplasia | 2020-04-11 | no assertion criteria provided | clinical testing |