Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000876900 | SCV001019537 | likely benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2023-02-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001570442 | SCV001794736 | likely benign | not provided | 2018-06-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938375 | SCV004755133 | likely benign | ACTG1-related condition | 2019-07-11 | 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). |
Centre de Biologie Pathologie Génétique, |
RCV001251655 | SCV001427395 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |