Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000431973 | SCV000531896 | benign | not specified | 2016-10-03 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001083418 | SCV000554312 | benign | Alstrom syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000431973 | SCV000711881 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.Thr3402Thr in exon 14 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 19.40% (2239/11544 ) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs34617744). |
Athena Diagnostics Inc | RCV000710527 | SCV000840765 | benign | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402190 | SCV002670578 | benign | Cardiovascular phenotype | 2018-12-28 | criteria provided, single submitter | clinical testing | This alteration is classified as 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, |
RCV001083418 | SCV001453040 | benign | Alstrom syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |