Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000599900 | SCV000712565 | likely benign | not specified | 2016-10-25 | criteria provided, single submitter | clinical testing | p.Glu2018Glu in exon 45 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. |
Invitae | RCV001471785 | SCV001675901 | likely benign | not provided | 2023-06-06 | criteria provided, single submitter | clinical testing |