Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177640 | SCV000229541 | uncertain significance | not provided | 2016-02-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000177640 | SCV003231954 | benign | not provided | 2023-08-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000177640 | SCV003828163 | likely benign | not provided | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003967424 | SCV004783369 | likely benign | COL4A1-related condition | 2022-09-26 | 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). |