Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001420973 | SCV001003613 | likely benign | Primary pulmonary hypertension | 2023-11-24 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000863024 | SCV001300775 | benign | Pulmonary hypertension, primary, 1 | 2017-11-02 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
| Ambry Genetics | RCV004029324 | SCV004915288 | likely benign | Inborn genetic diseases | 2024-03-07 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
| Breakthrough Genomics, |
RCV004711316 | SCV005256035 | likely benign | not provided | criteria provided, single submitter | not provided |