Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001812322 | SCV001471250 | uncertain significance | not provided | 2022-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001334373 | SCV001527201 | uncertain significance | Pyruvate kinase deficiency of red cells | 2018-02-22 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Mayo Clinic Laboratories, |
RCV001812322 | SCV002541054 | uncertain significance | not provided | 2022-07-27 | criteria provided, single submitter | clinical testing | PP3, PM1 |
Revvity Omics, |
RCV001812322 | SCV003808468 | uncertain significance | not provided | 2023-08-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001812322 | SCV004326599 | likely benign | not provided | 2023-02-22 | criteria provided, single submitter | clinical testing |