Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734169 | SCV000862291 | uncertain significance | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001475419 | SCV001679609 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002535370 | SCV003540530 | likely benign | Inborn genetic diseases | 2021-08-17 | 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. |
Gene |
RCV000734169 | SCV003918349 | uncertain significance | not provided | 2022-10-14 | 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 |