Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003891543 | SCV000305432 | benign | BCKDHA-related disorder | 2021-07-21 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Illumina Laboratory Services, |
RCV000337766 | SCV000413335 | likely benign | Maple syrup urine disease | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000337766 | SCV001775091 | benign | Maple syrup urine disease | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004703214 | SCV005208428 | likely benign | not provided | criteria provided, single submitter | not provided |