Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000881524 | SCV001024708 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501387 | SCV002806518 | likely benign | Fraser syndrome 3 | 2021-07-29 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000881524 | SCV005231270 | benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003930542 | SCV004747082 | benign | GRIP1-related disorder | 2019-07-23 | 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). |