Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866511 | SCV001007618 | likely benign | Neuronal ceroid lipofuscinosis | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001675970 | SCV001893505 | likely benign | not provided | 2020-01-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918381 | SCV004736106 | likely benign | CLN8-related condition | 2019-03-25 | 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). |