Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173826 | SCV000224981 | benign | not specified | 2015-05-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003891706 | SCV000311684 | benign | STXBP2-related condition | 2024-01-28 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Invitae | RCV000530674 | SCV000648538 | benign | Familial hemophagocytic lymphohistiocytosis 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262766 | SCV002543008 | benign | Autoinflammatory syndrome | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000530674 | SCV002801234 | benign | Familial hemophagocytic lymphohistiocytosis 5 | 2022-05-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003422065 | SCV004146479 | benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | STXBP2: BP4, BS1, BS2 |