Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151451 | SCV000199482 | likely benign | not specified | 2013-04-04 | criteria provided, single submitter | clinical testing | The Leu174Leu variant in exon 07 of MYO1A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. |
Illumina Laboratory Services, |
RCV000370998 | SCV000380416 | uncertain significance | Nonsyndromic Hearing Loss, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952721 | SCV004769805 | likely benign | MYO1A-related condition | 2019-07-12 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |