Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220652 | SCV000269838 | benign | not specified | 2015-12-09 | criteria provided, single submitter | clinical testing | p.His252His in exon 4 of SMAD9: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.6% (49/8748) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs146836873). |
Gene |
RCV001722153 | SCV000515510 | benign | not provided | 2020-01-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001001697 | SCV000655011 | benign | Pulmonary hypertension, primary, 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001001697 | SCV001159269 | benign | Pulmonary hypertension, primary, 2 | 2023-09-18 | criteria provided, single submitter | clinical testing |