Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000483066 | SCV000571777 | likely pathogenic | not provided | 2022-12-20 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ce |
RCV000483066 | SCV000575610 | uncertain significance | not provided | 2016-10-01 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000509282 | SCV000607003 | not provided | GRIN1-related disorder | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |