Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156221 | SCV000205937 | likely benign | not specified | 2013-11-26 | criteria provided, single submitter | clinical testing | 4153-8C>G in intron 31 of MYO7A: This variant has not been previously reported i n individuals with hearing loss but has been identified in 1% (3/298) chromosome s of African descendant by the 1000 Genomes Project (http://www.1000genomes.org; dbSNP rs143216377). This variant is located within the 3' splice consensus, but not the invariant sequence. Computational tools suggest no impact to splicing, though this information is not predictive enough to rule out pathogenicity. In s ummary, this variant is likely benign based upon its high frequency and lack of predicted splicing impact. |
Counsyl | RCV000664878 | SCV000788902 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001476029 | SCV001680232 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001476029 | SCV001871260 | uncertain significance | not provided | 2021-08-06 | criteria provided, single submitter | clinical testing | In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001271757 | SCV001453183 | uncertain significance | Usher syndrome type 1B | 2020-01-24 | no assertion criteria provided | clinical testing |