Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000892432 | SCV001036304 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910618 | SCV004719198 | likely benign | DYNC2LI1-related condition | 2019-08-09 | 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). |
Biochemical Molecular Genetic Laboratory, |
RCV000985152 | SCV001133144 | likely pathogenic | Short-rib thoracic dysplasia 15 with polydactyly | 2019-09-26 | no assertion criteria provided | clinical testing |