Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825704 | SCV000967152 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Arg3619Arg in exon 16 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.01% (6/66646) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs201598829). |
Invitae | RCV001454104 | SCV001657816 | likely benign | Alstrom syndrome | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002427081 | SCV002728684 | likely benign | Cardiovascular phenotype | 2019-06-10 | 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. |
Fulgent Genetics, |
RCV001454104 | SCV002799159 | likely benign | Alstrom syndrome | 2021-09-13 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001454104 | SCV002078989 | likely benign | Alstrom syndrome | 2021-01-13 | no assertion criteria provided | clinical testing |