Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868198 | SCV001009500 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001575758 | SCV001802816 | likely benign | not provided | 2021-03-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908239 | SCV004727071 | likely benign | FLNA-related condition | 2020-10-23 | 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). |