Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216986 | SCV000270444 | likely benign | not specified | 2016-02-18 | criteria provided, single submitter | clinical testing | p.Ala325Ala in exon 10 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 2/66494 of Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs553878240). |
Invitae | RCV003546494 | SCV004260257 | likely benign | not provided | 2023-08-11 | criteria provided, single submitter | clinical testing |