Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000626282 | SCV000746939 | uncertain significance | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002483758 | SCV002789861 | uncertain significance | Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome; Infantile liver failure syndrome 2 | 2022-04-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002529787 | SCV003475063 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002529787 | SCV003929980 | uncertain significance | not provided | 2022-12-05 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 34490615, 31761904) |