Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030449 | SCV000053118 | benign | Pheochromocytoma | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Benign. |
Prevention |
RCV000248855 | SCV000309333 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000248855 | SCV000567458 | likely benign | not specified | 2017-08-22 | 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. |
ARUP Laboratories, |
RCV001811222 | SCV002058084 | benign | not provided | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054523 | SCV002400270 | benign | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256011 | SCV002527078 | benign | Hereditary cancer-predisposing syndrome | 2021-04-04 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000248855 | SCV002552141 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496469 | SCV002806414 | likely benign | Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Mitochondrial complex 2 deficiency, nuclear type 4 | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001811222 | SCV002821007 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | SDHB: BS2 |
Color Diagnostics, |
RCV003514304 | SCV004362274 | benign | Paragangliomas 4 | 2022-09-20 | criteria provided, single submitter | clinical testing |