Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002316913 | SCV000850743 | likely benign | Inborn genetic diseases | 2016-06-29 | 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. |
Gene |
RCV000722971 | SCV001779214 | likely benign | not provided | 2021-06-15 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27789416) |
Invitae | RCV000722971 | SCV003033554 | likely benign | not provided | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Gharavi Laboratory, |
RCV000722971 | SCV000854102 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |