Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199848 | SCV000250143 | uncertain significance | not provided | 2023-08-07 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Does not occur within a calcium-binding-EGF-like domain (Callewaert et al., 2009, Frederic et al., 2009); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19006240, 18767143) |
Invitae | RCV000541110 | SCV000630182 | likely benign | Congenital contractural arachnodactyly | 2023-07-20 | criteria provided, single submitter | clinical testing |