Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002307016 | SCV002604113 | likely pathogenic | Usher syndrome type 1 | 2022-05-12 | criteria provided, single submitter | clinical testing | NM_000260.3(MYO7A):c.602delA(N201Mfs*62) is expected to be pathogenic in the context of MYO7A-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MYO7A, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |