Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174273 | SCV000225549 | uncertain significance | not provided | 2016-05-26 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000174273 | SCV001142897 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000174273 | SCV001729498 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000174273 | SCV001851252 | benign | not provided | 2019-07-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937562 | SCV004760675 | likely benign | ABHD12-related condition | 2019-11-20 | 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). |