Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000761305 | SCV000891282 | likely pathogenic | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 2018-07-16 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000186581 | SCV000240157 | pathogenic | Infantile liver failure syndrome 2 | 2015-07-02 | no assertion criteria provided | literature only |