Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082631 | SCV000114673 | uncertain significance | not provided | 2012-08-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000082631 | SCV001783461 | uncertain significance | not provided | 2021-04-15 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports a deleterious effect on splicing; Observed in individuals with unspecified cancers (Mandelker 2017); This variant is associated with the following publications: (PMID: 28873162) |
Invitae | RCV002055228 | SCV002474519 | likely benign | Birt-Hogg-Dube syndrome | 2023-11-24 | criteria provided, single submitter | clinical testing |