Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174565 | SCV000225885 | benign | not specified | 2015-04-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000174565 | SCV000311656 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Laboratory for Molecular Medicine, |
RCV000174565 | SCV000540477 | likely benign | not specified | 2016-03-29 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 patient with |
Labcorp Genetics |
RCV000533997 | SCV000648524 | benign | Familial hemophagocytic lymphohistiocytosis 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000174565 | SCV002050972 | likely benign | not specified | 2021-12-10 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262767 | SCV002542975 | benign | Autoinflammatory syndrome | 2022-04-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001529463 | SCV003918049 | benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | STXBP2: BS1, BS2 |
Breakthrough Genomics, |
RCV001529463 | SCV005208088 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV001529463 | SCV001742969 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001529463 | SCV001931726 | likely benign | not provided | no assertion criteria provided | clinical testing |