Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037769 | SCV001201200 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-11-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585937 | SCV001811611 | likely benign | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918647 | SCV004730415 | likely benign | FLNA-related condition | 2023-08-08 | 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). |