Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000615724 | SCV000731503 | likely benign | not specified | 2017-03-28 | criteria provided, single submitter | clinical testing | p.Pro555Pro in exon 15 of MYH14: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 4/56792 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs202104229). |
Invitae | RCV003718267 | SCV004510035 | likely benign | not provided | 2023-09-14 | criteria provided, single submitter | clinical testing |