Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001709661 | SCV000605085 | benign | not provided | 2022-09-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002231190 | SCV001723719 | benign | Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001709661 | SCV001937062 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 11391798, 27884173) |
Genome- |
RCV001807286 | SCV002054706 | benign | Mitochondrial complex 2 deficiency, nuclear type 3 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001807285 | SCV002054708 | benign | Paragangliomas 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001807284 | SCV002054709 | benign | Pheochromocytoma | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002268136 | SCV002549995 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316659 | SCV004015427 | benign | Paragangliomas 3 | 2023-07-07 | criteria provided, single submitter | clinical testing |