Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001331935 | SCV001524102 | pathogenic | Alveolar capillary dysplasia with pulmonary venous misalignment | 2019-10-15 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in one patient as disease-causing [PMID: 27439648, 28469849] |
Daryl Scott Lab, |
RCV001331935 | SCV002515326 | pathogenic | Alveolar capillary dysplasia with pulmonary venous misalignment | 2022-02-01 | criteria provided, single submitter | clinical testing |