Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV000787027 | SCV000925937 | likely benign | Interstitial lung disease due to ABCA3 deficiency | 2019-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000884883 | SCV001028286 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000884883 | SCV001905113 | benign | not provided | 2020-08-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24871971) |
Ambry Genetics | RCV002458406 | SCV002736362 | benign | Hereditary pulmonary alveolar proteinosis | 2019-01-14 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |