Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000608125 | SCV000731516 | uncertain significance | not specified | 2017-03-20 | criteria provided, single submitter | clinical testing | p.Ile539Met, c.1617C>G (MYO7A; NM_000260.3; Chr11g.76873961C>G; GRCh37): The p.I le539Met variant in MYO7A has not been previously reported in individuals with h earing loss, but was identified in 1/8618 East Asian chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs782450807). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools an d conservation analysis do not provide strong support for or against an impact t o the protein. In summary, the clinical significance of the p.Ile539Met variant is uncertain. |
Natera, |
RCV001834951 | SCV002086580 | uncertain significance | Usher syndrome type 1B | 2019-11-11 | no assertion criteria provided | clinical testing |