Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000870737 | SCV001012273 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001287946 | SCV001474716 | benign | not specified | 2020-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000870737 | SCV001888126 | benign | not provided | 2018-11-09 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001287946 | SCV002067386 | benign | not specified | 2017-12-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000870737 | SCV002563467 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | SETBP1: BP4, BS2 |
Fulgent Genetics, |
RCV002502260 | SCV002799347 | likely benign | Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 | 2022-04-06 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316491 | SCV004015439 | likely benign | Schinzel-Giedion syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing |