Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726755 | SCV000702797 | uncertain significance | not provided | 2016-11-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726755 | SCV000722439 | likely benign | not provided | 2021-03-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085927 | SCV001006550 | likely benign | Alstrom syndrome | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002448831 | SCV002611872 | likely benign | Cardiovascular phenotype | 2019-10-06 | 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. |
Natera, |
RCV001085927 | SCV001455023 | likely benign | Alstrom syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |