Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219483 | SCV000270061 | likely benign | not specified | 2015-06-26 | criteria provided, single submitter | clinical testing | p.Val231Ile in exon 5 of CHRM2: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (299/65916) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs76394680). |
Gene |
RCV000219483 | SCV000525609 | benign | not specified | 2017-10-26 | 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 | RCV000554962 | SCV000659698 | benign | Dilated Cardiomyopathy, Dominant | 2024-01-29 | criteria provided, single submitter | clinical testing |