Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000375296 | SCV000396447 | uncertain significance | HNSHA due to aldolase A deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000375296 | SCV001657458 | likely benign | HNSHA due to aldolase A deficiency | 2024-01-06 | criteria provided, single submitter | clinical testing |