Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622434 | SCV000741091 | pathogenic | Inborn genetic diseases | 2019-01-20 | criteria provided, single submitter | clinical testing | |
OMIM | RCV003325501 | SCV004030505 | pathogenic | Amegakaryocytic thrombocytopenia, congenital, 2 | 2023-08-28 | no assertion criteria provided | literature only |