Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001521424 | SCV000527592 | likely benign | not provided | 2021-05-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001521424 | SCV001730765 | benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252124 | SCV002523383 | likely benign | See cases | 2019-12-15 | criteria provided, single submitter | clinical testing | ACMG classification criteria: BS1, BP6 |
Prevention |
RCV004533053 | SCV004729639 | likely benign | PNPT1-related disorder | 2019-05-23 | 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). |