Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734124 | SCV000862241 | uncertain significance | not provided | 2018-06-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001503668 | SCV001708525 | likely benign | Niemann-Pick disease, type C1 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325451 | SCV002610078 | likely benign | Inborn genetic diseases | 2022-08-14 | 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. |