Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147454 | SCV000194887 | benign | not specified | 2015-02-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000875091 | SCV001017366 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000875091 | SCV001911085 | benign | not provided | 2020-02-28 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003315931 | SCV004015440 | benign | Schinzel-Giedion syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975165 | SCV004792656 | benign | SETBP1-related condition | 2019-11-01 | 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). |