Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151537 | SCV000199661 | likely benign | not specified | 2014-04-03 | criteria provided, single submitter | clinical testing | Lys423Lys in exon 13 of NEBL: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. |
Ambry Genetics | RCV003162616 | SCV003858009 | likely benign | Inborn genetic diseases | 2022-11-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV003509499 | SCV004298644 | likely benign | Primary dilated cardiomyopathy | 2023-09-29 | criteria provided, single submitter | clinical testing |