Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117018 | SCV000151140 | likely benign | not specified | 2013-11-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000766968 | SCV000250168 | uncertain significance | not provided | 2023-05-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Does not occur within a calcium-binding EGF-like domain (Callewaert et al., 2008, Frederic et al., 2009); This variant is associated with the following publications: (PMID: 18767143, 19006240, 35830949) |
Invitae | RCV000537654 | SCV000630196 | likely benign | Congenital contractural arachnodactyly | 2023-12-31 | criteria provided, single submitter | clinical testing |