Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000417592 | SCV000511551 | likely benign | not provided | 2016-06-14 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000417592 | SCV000726369 | benign | not provided | 2020-06-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083933 | SCV001012597 | benign | Marinesco-Sjögren syndrome | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000611008 | SCV001474734 | benign | not specified | 2020-06-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000417592 | SCV004699073 | benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | SIL1: BP4, BS1, BS2 |
Prevention |
RCV003902468 | SCV004718538 | benign | SIL1-related condition | 2019-08-14 | 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). |