Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001450657 | SCV001654271 | likely benign | Nephronophthisis 14 | 2022-03-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003973310 | SCV004798754 | likely benign | ZNF423-related disorder | 2023-05-10 | 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). |