Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003974794 | SCV004798364 | benign | ITPKC-related condition | 2019-11-15 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
OMIM | RCV000004498 | SCV000024672 | risk factor | Kawasaki disease, susceptibility to | 2010-03-15 | no assertion criteria provided | literature only |