Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598675 | SCV000710064 | pathogenic | not provided | 2022-12-02 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34046058, 33620284, 25943031) |
Ambry Genetics | RCV001267220 | SCV001445401 | pathogenic | Inborn genetic diseases | 2016-05-12 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000709985 | SCV000840351 | not provided | PIGT-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. | |
OMIM | RCV000760144 | SCV000889951 | pathogenic | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 2019-03-12 | no assertion criteria provided | literature only |