Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825842 | SCV000967321 | likely benign | not specified | 2019-02-26 | criteria provided, single submitter | clinical testing | The p.Glu114Glu variant in TMC1 is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 0.003% (1/34458) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BP4, BP7. |
Invitae | RCV003768560 | SCV004659886 | likely benign | not provided | 2023-05-27 | criteria provided, single submitter | clinical testing |