Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000154002 | SCV000203627 | uncertain significance | not provided | 2015-11-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312686 | SCV000847110 | likely benign | Inborn genetic diseases | 2016-07-11 | 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. |
Gene |
RCV000154002 | SCV000979199 | benign | not provided | 2019-10-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087507 | SCV001003943 | likely benign | Pitt-Hopkins syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing |