Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036248 | SCV000059900 | likely benign | not specified | 2011-03-30 | criteria provided, single submitter | clinical testing | The Ile24Ile variant in MYO7A has not been reported in the literature nor previo usly identified by our laboratory. This variant is not expected to have clinical significance since it does not alter an amino acid residue and is not located n ear a splice junction. |
Invitae | RCV001414978 | SCV001617127 | likely benign | not provided | 2023-07-08 | criteria provided, single submitter | clinical testing |