Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001294090 | SCV001482896 | uncertain significance | Paragangliomas 4 | 2018-11-07 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001452806 | SCV001656479 | benign | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2023-04-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001587324 | SCV001823608 | likely benign | not provided | 2019-02-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 12618761) |
Sema4, |
RCV002255641 | SCV002527090 | benign | Hereditary cancer-predisposing syndrome | 2021-04-22 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV002465864 | SCV002760246 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |