Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000281295 | SCV000414456 | likely benign | Autosomal dominant nonsyndromic hearing loss 4A | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Laboratory for Molecular Medicine, |
RCV000609057 | SCV000711974 | uncertain significance | not specified | 2016-04-12 | criteria provided, single submitter | clinical testing | The p.Arg1867Cys variant in MYH14 has not been previously reported in individual s with hearing loss, but has been identified in 0.2% (15/8434) of East Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs187789045). Although this variant has been seen in the general popul ation, its frequency is not high enough to rule out a pathogenic role. Computati onal prediction tools and conservation analysis suggest that the p.Arg1867Cys va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. In summary, the clinical significance of the p.Arg186 7Cys variant is uncertain. |
Gene |
RCV001550179 | SCV001770467 | uncertain significance | not provided | 2020-11-30 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 33229591) |
Invitae | RCV001550179 | SCV004525464 | likely benign | not provided | 2023-05-19 | criteria provided, single submitter | clinical testing |