Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788453 | SCV000927575 | uncertain significance | not provided | 2018-03-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002234176 | SCV001235907 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2022-07-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000788453 | SCV001547263 | uncertain significance | not provided | 2020-09-30 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 636584; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014) |