Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000488108 | SCV000114587 | uncertain significance | not provided | 2017-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001488784 | SCV001693309 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002513851 | SCV003690696 | likely benign | Inborn genetic diseases | 2024-02-28 | 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. |
Revvity Omics, |
RCV003133132 | SCV003808430 | uncertain significance | Polycystic kidney disease 4 | 2022-05-23 | criteria provided, single submitter | clinical testing |