Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000949216 | SCV001095464 | likely benign | Nephronophthisis 14 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960604 | SCV004767044 | likely benign | ZNF423-related disorder | 2019-07-17 | no assertion criteria provided | 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). |