Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000022910 | SCV001440100 | pathogenic | Nicolaides-Baraitser syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001533105 | SCV001748925 | pathogenic | SMARCA2-related BAFopathy | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000059676 | SCV002023590 | likely pathogenic | not provided | 2020-03-24 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000022910 | SCV000044201 | pathogenic | Nicolaides-Baraitser syndrome | 2012-02-26 | no assertion criteria provided | literature only | |
Uni |
RCV000059676 | SCV000091246 | not provided | not provided | no assertion provided | not provided |