Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000585190 | SCV000251753 | likely benign | not provided | 2021-02-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000585190 | SCV000692689 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | DNAJC9-AS1: BS2; MRPS16: BP4, BS2 |
Invitae | RCV000585190 | SCV001031495 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003917796 | SCV004730611 | likely benign | MRPS16-related condition | 2019-11-11 | 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). |
Mayo Clinic Laboratories, |
RCV000585190 | SCV000802909 | likely benign | not provided | 2016-02-29 | no assertion criteria provided | clinical testing |