Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001034190 | SCV001197521 | likely benign | Congenital muscular hypertrophy-cerebral syndrome | 2023-08-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003314659 | SCV004014379 | uncertain significance | not provided | 2023-01-12 | criteria provided, single submitter | clinical testing | Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |