Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000867467 | SCV001008697 | likely benign | Alstrom syndrome | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345984 | SCV002648452 | likely benign | Cardiovascular phenotype | 2019-03-28 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003226402 | SCV003923071 | likely benign | not specified | 2023-03-27 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000867467 | SCV001453434 | uncertain significance | Alstrom syndrome | 2020-02-13 | no assertion criteria provided | clinical testing |