Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000517561 | SCV000612701 | benign | not specified | 2019-03-11 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000969961 | SCV001117513 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000969961 | SCV001149304 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | CCDC88C: BP4, BS2 |
Breakthrough Genomics, |
RCV000969961 | SCV005217877 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000969961 | SCV001799550 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000969961 | SCV001966096 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004551659 | SCV004743582 | benign | CCDC88C-related disorder | 2019-12-09 | no assertion criteria provided | 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). |