Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000860877 | SCV001001051 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989202 | SCV001139431 | uncertain significance | Brain-lung-thyroid syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000860877 | SCV001813137 | likely benign | not provided | 2020-08-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23430038, 28333917) |
Ce |
RCV000860877 | SCV003917320 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | NKX2-1: BS1, BS2 |
Prevention |
RCV003918320 | SCV004742003 | likely benign | NKX2-1-related condition | 2020-09-16 | 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). |