Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000251670 | SCV000305498 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000551038 | SCV000641736 | likely benign | Lethal multiple pterygium syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711662 | SCV000723994 | likely benign | not provided | 2019-12-16 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28518170) |
Revvity Omics, |
RCV001711662 | SCV003832132 | uncertain significance | not provided | 2019-06-24 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001711662 | SCV004226022 | uncertain significance | not provided | 2023-05-26 | criteria provided, single submitter | clinical testing |