Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153719 | SCV000203277 | uncertain significance | not provided | 2018-08-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765889 | SCV000897298 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000765889 | SCV002481927 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002516089 | SCV003702359 | likely benign | Inborn genetic diseases | 2022-01-26 | 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. |