Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000466460 | SCV000559168 | benign | Mosaic variegated aneuploidy syndrome 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004707303 | SCV005237144 | benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV004730948 | SCV005340262 | benign | CEP57-related disorder | 2024-03-06 | 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). |