Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036118 | SCV000059770 | uncertain significance | not specified | 2010-09-27 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Arg120His varia nt in MYO7A has not been reported in the literature nor previously identified by our laboratory. This residue is conserved in mammals though not in lower specie s. Computational analyses (PolyPhen, SIFT, AlignGVGD) provide inconsistent predi ctions regarding the impact to the protein though this information is not very p redictive of pathogenicity anyway. In summary, the clinical significance of this variant cannot be determined at this time. |
Centre for Mendelian Genomics, |
RCV001196537 | SCV001367145 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 11 | 2019-11-25 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. |
Gene |
RCV001785454 | SCV002027965 | uncertain significance | not provided | 2021-11-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001785454 | SCV002391115 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001275889 | SCV001461539 | uncertain significance | Usher syndrome type 1B | 2020-09-16 | no assertion criteria provided | clinical testing |