Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000399740 | SCV000332965 | uncertain significance | not provided | 2015-11-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000399740 | SCV002585599 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | ANKRD11: BP4, BS1 |
Invitae | RCV002519101 | SCV003241080 | likely benign | KBG syndrome | 2023-09-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947839 | SCV004759672 | likely benign | ANKRD11-related condition | 2023-01-31 | 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). |