Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173491 | SCV000224609 | likely benign | not specified | 2015-03-13 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000224202 | SCV000281410 | likely benign | not provided | 2016-02-01 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000224202 | SCV000491517 | likely benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26931382) |
Invitae | RCV001082834 | SCV000769716 | likely benign | ALG1-congenital disorder of glycosylation | 2024-02-01 | criteria provided, single submitter | clinical testing |