Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000276544 | SCV000376338 | uncertain significance | Metachondromatosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000315032 | SCV000376339 | uncertain significance | Noonan syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000362740 | SCV000376340 | uncertain significance | Noonan syndrome with multiple lentigines | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000486749 | SCV000565452 | likely benign | not specified | 2017-08-04 | 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. |
Prevention |
RCV004537730 | SCV004717010 | likely benign | PTPN11-related disorder | 2022-05-16 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |