Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598283 | SCV000701675 | uncertain significance | not provided | 2016-10-13 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001075795 | SCV001241428 | uncertain significance | Retinal dystrophy | 2019-07-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000598283 | SCV001724084 | benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000598283 | SCV001856669 | likely benign | not provided | 2020-12-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935588 | SCV004752681 | likely benign | ABCA4-related condition | 2019-07-22 | 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). |