Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001330145 | SCV001521752 | likely pathogenic | Beta-D-mannosidosis | 2020-05-05 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Revvity Omics, |
RCV001330145 | SCV002022752 | likely pathogenic | Beta-D-mannosidosis | 2019-12-28 | criteria provided, single submitter | clinical testing |