Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000767082 | SCV000572457 | likely benign | not provided | 2021-04-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086960 | SCV000659699 | likely benign | Dilated Cardiomyopathy, Dominant | 2023-09-08 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000478978 | SCV000711608 | likely benign | not specified | 2017-03-30 | criteria provided, single submitter | clinical testing | p.Leu235Met in exon 5 of CHRM2: This variant is not expected to have clinical si gnificance because it has been identified in 0.43% (35/8206) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs138886480). |