Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000387082 | SCV000332727 | uncertain significance | not provided | 2015-07-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001407250 | SCV001609217 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2021-12-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977733 | SCV004786747 | likely benign | FLNA-related condition | 2023-01-05 | 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). |