Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547625 | SCV000641690 | likely benign | Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 | 2023-09-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591237 | SCV001826660 | likely benign | not provided | 2020-09-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002483424 | SCV002797311 | likely benign | Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23; Branchiootorenal syndrome 1 | 2022-04-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003962521 | SCV004782968 | likely benign | SIX1-related condition | 2020-01-10 | 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). |