Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001397478 | SCV001599226 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003884777 | SCV004700711 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | FLNA: BP4, BP7 |