Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000232880 | SCV000290089 | benign | Alstrom syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697681 | SCV000532670 | benign | not provided | 2018-07-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000441955 | SCV000864129 | benign | not specified | 2013-12-17 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000441955 | SCV000967034 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.Gln1534Gln in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.50% (147/9796) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs144720929). |
Genetic Services Laboratory, |
RCV000441955 | SCV002070955 | benign | not specified | 2019-08-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338753 | SCV002635466 | 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, |
RCV000232880 | SCV002080511 | likely benign | Alstrom syndrome | 2019-12-02 | no assertion criteria provided | clinical testing |