Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000613555 | SCV000712444 | likely benign | not specified | 2016-10-09 | criteria provided, single submitter | clinical testing | p.Ser1736Asn in exon 37 of MYH14: This variant is not expected to have clinical significance because it has been identified in 0.3% (10/3348) of Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs776401666). In addition, 8 mammals have an asparagine (Asn) at this posi tion despite high nearby amino acid conservation. |
Invitae | RCV001438535 | SCV001641412 | likely benign | not provided | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001438535 | SCV002015818 | likely benign | not provided | 2021-05-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |