Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Tartaglia Lab, |
RCV000852398 | SCV000902252 | pathogenic | Noonan syndrome | 2019-04-01 | criteria provided, single submitter | research | this is a pathogenic variant associated with Noonan Syndrome |
Baylor Genetics | RCV000010054 | SCV001522086 | pathogenic | Noonan syndrome 12 | 2020-05-28 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Revvity Omics, |
RCV000010054 | SCV002019904 | pathogenic | Noonan syndrome 12 | 2020-07-07 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000010054 | SCV000030275 | pathogenic | Noonan syndrome 12 | 1994-08-02 | no assertion criteria provided | literature only | |
OMIM | RCV001072115 | SCV001237453 | pathogenic | Neoplasm of ovary | 1994-08-02 | no assertion criteria provided | literature only |