Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439779 | SCV000533531 | benign | not specified | 2016-10-28 | 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 | RCV001083371 | SCV000554301 | benign | Alstrom syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000439779 | SCV000711819 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.Gln632Gln in exon 8 of ALMS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 4.44% (435/9796) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs116033693). |
Athena Diagnostics Inc | RCV000710529 | SCV000840769 | benign | not provided | 2018-05-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411393 | SCV002718172 | benign | Cardiovascular phenotype | 2019-01-07 | 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. |
ARUP Laboratories, |
RCV001083371 | SCV004562286 | benign | Alstrom syndrome | 2022-12-21 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001083371 | SCV001458907 | benign | Alstrom syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |