Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000298230 | SCV000344244 | uncertain significance | not provided | 2016-07-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000298230 | SCV002587889 | uncertain significance | not provided | 2022-04-29 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002480045 | SCV002782473 | uncertain significance | Polycystic kidney disease 4 | 2022-02-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004021292 | SCV005006786 | likely benign | Inborn genetic diseases | 2023-12-16 | 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. |