Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000873395 | SCV001015379 | likely benign | Niemann-Pick disease, type C1 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004027827 | SCV005034301 | likely benign | Inborn genetic diseases | 2024-03-10 | 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. |
Natera, |
RCV000873395 | SCV002095234 | likely benign | Niemann-Pick disease, type C1 | 2020-01-24 | no assertion criteria provided | clinical testing |