Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036147 | SCV000059799 | uncertain significance | not specified | 2018-10-30 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Val1491Met va riant in MYO7A has been reported by our laboratory in 1 individual with hearing loss. It has also been identified in 0.11% (39/35372) of Latino chromosomes by g nomAD (http://gnomad.broadinstitute.org). Computational prediction tools and con servation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Val1491Met varian t is uncertain, its frequency suggests it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting. |
Invitae | RCV001241478 | SCV001414500 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001241478 | SCV001778363 | uncertain significance | not provided | 2022-08-23 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001826548 | SCV002088458 | uncertain significance | Usher syndrome type 1B | 2019-11-11 | no assertion criteria provided | clinical testing |