Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000548941 | SCV000644884 | benign | Familial hemophagocytic lymphohistiocytosis 2 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000548941 | SCV001259242 | benign | Familial hemophagocytic lymphohistiocytosis 2 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Genome Diagnostics Laboratory, |
RCV002263781 | SCV002542365 | likely benign | Autoinflammatory syndrome | 2020-07-01 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316709 | SCV004017105 | benign | Lymphoma, non-Hodgkin, familial | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV004808771 | SCV005436289 | likely benign | not provided | 2024-09-01 | criteria provided, single submitter | clinical testing | PRF1: BP4, BP7, BS1 |