Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002421620 | SCV002718373 | likely benign | Inborn genetic diseases | 2017-12-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Labcorp Genetics |
RCV003097386 | SCV003270559 | likely benign | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2022-10-23 | criteria provided, single submitter | clinical testing |