Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003311681 | SCV004010727 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | SMO: BP4, BS2 |
Prevention |
RCV003925212 | SCV004746095 | likely benign | SMO-related condition | 2020-10-13 | 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). |
ITMI | RCV000122081 | SCV000086296 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |