Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592418 | SCV000707668 | uncertain significance | not provided | 2018-05-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079054 | SCV001009084 | likely benign | Alpha-1-antitrypsin deficiency | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160048 | SCV003853794 | likely benign | Inborn genetic diseases | 2022-11-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |