Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156475 | SCV000206194 | uncertain significance | not specified | 2014-04-04 | criteria provided, single submitter | clinical testing | The Ser906Pro variant in MYO6 has not been previously reported in individuals wi th hearing loss and was absent from large population studies. Computational pred iction tools and conservation analyses do not provide strong support for or agai nst an impact to the protein. In summary, additional information is needed to de termine the clinical significance of this variant. |
Division of Human Genetics, |
RCV000477860 | SCV000536858 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 22 | 2015-10-27 | no assertion criteria provided | research |