Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862778 | SCV001003329 | benign | Neuronal ceroid lipofuscinosis 7 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938227 | SCV004748554 | likely benign | MFSD8-related condition | 2019-06-05 | 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). |