Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440876 | SCV000529349 | benign | not specified | 2016-10-10 | 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 | RCV000462617 | SCV000554317 | benign | Alstrom syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000440876 | SCV000711863 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | c.9779-9C>T in intron 11 of ALMS1: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the sp lice consensus sequence and is therefore unlikely to impact splicing. It has bee n identified in 12.00% (1176/9796) of African chromosomes by the Exome Aggregati on Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs10199680). |
Athena Diagnostics Inc | RCV000710535 | SCV000840775 | benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000462617 | SCV001453037 | benign | Alstrom syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |