Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003153434 | SCV003842423 | pathogenic | not provided | 2023-03-14 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect (Niceta et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25865493, 33528093, 31328266, 31600839) |
Reparto di Fisiopatologia delle Malattie Genetiche, |
RCV000149902 | SCV000196753 | pathogenic | Ayme-Gripp syndrome | no assertion criteria provided | not provided | Converted during submission to Pathogenic. | |
OMIM | RCV000149902 | SCV000223822 | pathogenic | Ayme-Gripp syndrome | 2015-05-07 | no assertion criteria provided | literature only |