Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000399908 | SCV000339411 | uncertain significance | not provided | 2017-08-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088720 | SCV001019687 | benign | ALG9 congenital disorder of glycosylation | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000399908 | SCV001796945 | likely benign | not provided | 2020-09-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957452 | SCV004784757 | likely benign | ATP6V0A2-related condition | 2021-12-01 | 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). |