Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000033365 | SCV000057270 | likely benign | not specified | 2012-01-24 | 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, |
RCV000033365 | SCV000709711 | uncertain significance | not specified | 2018-02-28 | criteria provided, single submitter | clinical testing | Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 2/246114 total chr in GnomAd; LB by geneDx in ClinVar - no data; not in HGMD or google search; predicted benign. Identified in 1 individual with HCM. |
Invitae | RCV002513323 | SCV002935579 | likely benign | RASopathy | 2023-08-17 | criteria provided, single submitter | clinical testing |