Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000982538 | SCV001130554 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV001449680 | SCV001652929 | likely benign | not specified | 2020-05-27 | criteria provided, single submitter | clinical testing | The p.Phe794Phe variant in MYO7A is classified as likely benign because it does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 0.02% (3/12904) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). . ACMG/AMP Criteria applied: BP4, BP7, PM2_Supporting. |
Gene |
RCV000982538 | SCV004040127 | uncertain significance | not provided | 2023-03-31 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |