Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000880493 | SCV001023590 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000880493 | SCV001152091 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | NBAS: BP4, BS2 |
Prevention |
RCV003967978 | SCV004795252 | likely benign | NBAS-related condition | 2022-02-03 | 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). |