Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001458202 | SCV001662018 | likely benign | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2022-07-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002439083 | SCV002749412 | likely benign | Inborn genetic diseases | 2018-03-09 | 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. |