Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002516307 | SCV000283663 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000310725 | SCV000356670 | likely benign | Hereditary leiomyomatosis and renal cell cancer | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000310725 | SCV000356671 | likely benign | Hereditary leiomyomatosis and renal cell cancer | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000231245 | SCV000356672 | likely benign | Fumarase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001818563 | SCV002065563 | likely benign | not specified | 2020-02-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907849 | SCV004718365 | likely benign | FH-related condition | 2023-10-13 | criteria provided, single submitter | 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). |
Natera, |
RCV000231245 | SCV002085300 | likely benign | Fumarase deficiency | 2019-09-26 | no assertion criteria provided | clinical testing |