Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174514 | SCV000225826 | likely benign | not specified | 2015-07-20 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000174514 | SCV000593058 | likely benign | not specified | 2016-01-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000872541 | SCV001014370 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990960 | SCV001142033 | likely benign | FRAXE | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000990960 | SCV002806132 | likely benign | FRAXE | 2022-01-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000872541 | SCV004166200 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | AFF2: BP4, BS2 |
Prevention |
RCV003975275 | SCV004792576 | likely benign | AFF2-related condition | 2021-05-20 | 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). |