Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000870732 | SCV001012265 | likely benign | Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336823 | SCV002636620 | likely benign | Inborn genetic diseases | 2020-03-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
NIHR Bioresource Rare Diseases, |
RCV001004020 | SCV001162081 | likely pathogenic | Sensory neuropathy | no assertion criteria provided | research |