Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226654 | SCV000290107 | benign | Alstrom syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001535407 | SCV000532671 | benign | not provided | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000425601 | SCV000864103 | benign | not specified | 2013-12-17 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000425601 | SCV000967036 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.Val2913Val in exon 10 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 1.73% (169/9796) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs142611294). |
Ambry Genetics | RCV002374374 | SCV002685847 | benign | Cardiovascular phenotype | 2018-12-26 | 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, |
RCV000226654 | SCV002082923 | likely benign | Alstrom syndrome | 2019-12-02 | no assertion criteria provided | clinical testing |