Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000259799 | SCV000441414 | uncertain significance | Seckel syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001512667 | SCV001720121 | benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001512667 | SCV004148492 | benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | ATR: BP4, BS1, BS2 |
Prevention |
RCV003932390 | SCV004755987 | benign | ATR-related condition | 2024-01-22 | 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). |