Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000876463 | SCV001019037 | likely benign | Brown-Vialetto-van Laere syndrome 1 | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001593107 | SCV001824438 | likely benign | not provided | 2021-01-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955741 | SCV004767929 | likely benign | SLC52A3-related condition | 2019-03-20 | 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). |