Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002234442 | SCV000755932 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-02-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003318612 | SCV004022542 | uncertain significance | not provided | 2023-01-31 | criteria provided, single submitter | clinical testing | Identified in homozygous state in a patient with a complex congenital heart defect and heterotaxy (Jin et al., 2017); this patient harbored several additional cardiogenetic variants; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28991257) |