Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594793 | SCV000708061 | uncertain significance | not provided | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001333042 | SCV001525523 | uncertain significance | Alpha-methylacyl-CoA racemase deficiency | 2019-12-05 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001333042 | SCV001676943 | likely benign | Alpha-methylacyl-CoA racemase deficiency | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935621 | SCV004755860 | likely benign | AMACR-related disorder | 2022-09-14 | 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). |