Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000154268 | SCV000168831 | benign | not specified | 2012-01-24 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Prevention |
RCV000154268 | SCV000311008 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002512524 | SCV000560892 | benign | Costello syndrome | 2022-11-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000509255 | SCV000603968 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813385 | SCV002060508 | benign | Noonan syndrome and Noonan-related syndrome | 2021-06-16 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000154268 | SCV000203926 | benign | not specified | 2007-05-29 | no assertion criteria provided | clinical testing | |
Genome |
RCV000509255 | SCV000607340 | not provided | not provided | 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. | |
Department of Pathology and Laboratory Medicine, |
RCV000154268 | SCV001550027 | benign | not specified | no assertion criteria provided | clinical testing | LB/B > 4 on ClinVar or LB/B > 2 Rep | |
Diagnostic Laboratory, |
RCV000154268 | SCV001741856 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000154268 | SCV001917883 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000154268 | SCV001966845 | benign | not specified | no assertion criteria provided | clinical testing |