Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219466 | SCV000270436 | likely benign | not specified | 2015-08-12 | criteria provided, single submitter | clinical testing | p.Ser665Ser in exon 17 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. |
Prevention |
RCV003947704 | SCV004757451 | likely benign | MYH14-related condition | 2019-03-20 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |