Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556944 | SCV000629399 | benign | Spastic paraplegia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000731960 | SCV000859833 | likely benign | not specified | 2018-02-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000996048 | SCV001150494 | likely benign | not provided | 2018-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002384067 | SCV002689271 | benign | Inborn genetic diseases | 2017-09-28 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |