Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001265686 | SCV001443853 | likely pathogenic | Inborn genetic diseases | 2019-02-07 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000656719 | SCV000778859 | pathogenic | Coffin-Siris syndrome 7 | 2018-06-28 | no assertion criteria provided | literature only |