Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000887435 | SCV001030991 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000887435 | SCV001882919 | benign | not provided | 2019-12-23 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501431 | SCV002807220 | likely benign | Wiedemann-Steiner syndrome | 2021-09-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000887435 | SCV004129412 | benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | KMT2A: BP4, BP7, BS1, BS2 |
Prevention |
RCV003968067 | SCV004781755 | likely benign | KMT2A-related disorder | 2020-02-18 | 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). |