Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000880714 | SCV001023833 | likely benign | not provided | 2018-05-04 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000880714 | SCV001475894 | uncertain significance | not provided | 2020-02-26 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000880714 | SCV002049255 | likely benign | not provided | 2021-03-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000880714 | SCV003811370 | uncertain significance | not provided | 2019-04-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975520 | SCV004790063 | likely benign | HSPG2-related condition | 2019-03-22 | 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). |