Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000488455 | SCV000267228 | uncertain significance | Pulmonary hypertension, primary, 1 | 2016-03-18 | criteria provided, single submitter | reference population | |
Gene |
RCV001753635 | SCV001985398 | uncertain significance | not provided | 2020-06-19 | criteria provided, single submitter | clinical testing | Present in two Japanese patients reported to have pulmonary arterial hypertension and in a patient with anomalous unilateral single pulmonary vein (Kabata et al., 2013; Koyama et al., 2014; Kobayashi et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29718794, 24583436, 23675998, 27002414) |
Fulgent Genetics, |
RCV002494550 | SCV002780849 | uncertain significance | Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 | 2021-11-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002517440 | SCV003517063 | benign | Primary pulmonary hypertension | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Rare Disease Genomics Group, |
RCV000488455 | SCV000576023 | uncertain significance | Pulmonary hypertension, primary, 1 | no assertion criteria provided | literature only |