Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000971195 | SCV001118821 | benign | Desbuquois dysplasia 1 | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003972912 | SCV004787676 | likely benign | XYLT1-related condition | 2020-08-31 | 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). |