Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000608067 | SCV000712423 | likely benign | not specified | 2016-08-23 | criteria provided, single submitter | clinical testing | p.Ile2128Ile in exon 47 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/20742 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs748743374). |
Invitae | RCV001410848 | SCV001612901 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing |