Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591799 | SCV000702644 | uncertain significance | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000591799 | SCV001662043 | likely benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000591799 | SCV001816216 | likely benign | not provided | 2021-03-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952951 | SCV004770235 | likely benign | MYO7A-related condition | 2019-12-23 | 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, |
RCV001279395 | SCV001466490 | uncertain significance | Usher syndrome type 1B | 2020-04-16 | no assertion criteria provided | clinical testing |