Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001775788 | SCV002012660 | uncertain significance | not provided | 2020-02-14 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously reported as a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 26097890, 25349422, 25169980, 27109926, 28034880, 28427515, 28978721, 29540482) |
Database of Curated Mutations |
RCV000423825 | SCV000505183 | likely pathogenic | Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation | 2014-12-26 | no assertion criteria provided | literature only |