Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215120 | SCV000271584 | uncertain significance | not specified | 2017-05-05 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Thr287Ser var iant in CHRM2 has been identified by our laboratory in 1 individual with cardiom yopathy and has been identified in 0.2% (46/24002) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs 138193709). This variant has been reported in ClinVar (Variation ID: 228517). Co mputational prediction tools and conservation analysis do not provide strong sup port for or against an impact to the protein. In summary, while the clinical sig nificance of the p.Thr287Ser variant is uncertain, its frequency suggests that i t is more likely to be benign. |
Gene |
RCV000767185 | SCV000621964 | likely benign | not provided | 2020-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000555863 | SCV000659701 | likely benign | Dilated Cardiomyopathy, Dominant | 2023-12-19 | criteria provided, single submitter | clinical testing |