Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591813 | SCV000702391 | uncertain significance | not provided | 2016-10-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000591813 | SCV001047686 | likely benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279372 | SCV002566945 | uncertain significance | Connective tissue disorder | 2021-03-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925771 | SCV004742101 | likely benign | NKX3-2-related condition | 2020-01-14 | 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). |