Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000220999 | SCV000272070 | uncertain significance | not specified | 2015-11-19 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The c.519-6T>G vari ant in MYH9 has not been previously reported in individuals with hearing loss or in the large population studies. This variant is located in the 3' splice regio n. Computational tools do not suggest an impact to splicing and the thymine nucl eotide (T) at this position is not well conserved across species. However, this information is not predictive enough to rule out pathogenicity. In summary, whil e the clinical significance of the c.519-6T>G variant is uncertain, the computat ional and conservation data suggests it is more likely to be benign. |
| Illumina Laboratory Services, |
RCV001145644 | SCV001306335 | uncertain significance | MYH9-related disorder | 2018-01-13 | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Illumina Laboratory Services, |
RCV001145645 | SCV001306336 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 17 | 2018-01-13 | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Gene |
RCV001589133 | SCV001822935 | likely benign | not provided | 2020-10-26 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001589133 | SCV003027520 | likely benign | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing |