Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000601339 | SCV000731758 | uncertain significance | not specified | 2017-07-13 | criteria provided, single submitter | clinical testing | The p.Gln257Arg variant in BSND has not been previously reported in individuals with hearing loss, but has been reported in 21/34412 Latino chromosomes by the G enome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs19 9696535). Although this variant has been seen in the general population, its fre quency is not high enough to rule out a pathogenic role. Computational predictio n tools and conservation analyses suggest that this variant may not impact the p rotein, though this information is not predictive enough to rule out pathogenici ty. In summary, the clinical significance of the p.Gln257Arg variant is uncertai n. |
Labcorp Genetics |
RCV001860343 | SCV002252282 | likely benign | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing |