Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000303306 | SCV000337208 | uncertain significance | not provided | 2015-11-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000303306 | SCV001724738 | benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000303306 | SCV004125392 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | PCDH15: BP4, BP7 |
Prevention |
RCV003957427 | SCV004769432 | likely benign | PCDH15-related condition | 2019-12-09 | 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). |
Natera, |
RCV001833335 | SCV002089238 | benign | Usher syndrome type 1F | 2020-01-28 | no assertion criteria provided | clinical testing |