Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000434771 | SCV000524256 | benign | not specified | 2016-09-09 | 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. |
Laboratory for Molecular Medicine, |
RCV000434771 | SCV000711901 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.Arg4029Lys in exon 19 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 75.39% (6458/8566) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs1052161). |
Invitae | RCV000860051 | SCV000999966 | benign | Alstrom syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000860051 | SCV001769210 | benign | Alstrom syndrome | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348191 | SCV002651635 | benign | Cardiovascular phenotype | 2018-12-21 | 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, |
RCV000860051 | SCV001455030 | benign | Alstrom syndrome | 2020-09-16 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000434771 | SCV001740869 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000434771 | SCV001924613 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000434771 | SCV001930912 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000434771 | SCV001952595 | benign | not specified | no assertion criteria provided | clinical testing |