Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000894343 | SCV001038321 | likely benign | Polyglucosan body myopathy type 1 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910648 | SCV004720342 | likely benign | RBCK1-related condition | 2019-03-04 | 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). |