Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001463922 | SCV001667876 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004704584 | SCV005211107 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV004533799 | SCV004713962 | likely benign | MKS1-related disorder | 2023-03-14 | no assertion criteria provided | 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). |