Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000229996 | SCV000288291 | likely benign | Baller-Gerold syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002255336 | SCV002528363 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-07 | criteria provided, single submitter | curation | |
Revvity Omics, |
RCV003129815 | SCV003813804 | uncertain significance | not provided | 2020-09-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004532905 | SCV004743908 | likely benign | RECQL4-related disorder | 2022-07-21 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |