Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000247355 | SCV000309201 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000680323 | SCV000516318 | likely benign | not provided | 2016-07-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000247355 | SCV000712280 | likely benign | not specified | 2016-06-14 | criteria provided, single submitter | clinical testing | p.His426His in exon 11 of PTPN11: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. |
Invitae | RCV001484623 | SCV001689042 | likely benign | RASopathy | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374417 | SCV002686933 | likely benign | Cardiovascular phenotype | 2022-04-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |