Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001518860 | SCV001727634 | benign | Cataract 21 multiple types; Ayme-Gripp syndrome | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003416381 | SCV004145073 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | MAF: BP4, BP7 |
Prevention |
RCV003921141 | SCV004734115 | likely benign | MAF-related disorder | 2019-05-03 | 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). |