Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002310316 | SCV002602300 | likely pathogenic | Usher syndrome type 2A | 2021-12-29 | criteria provided, single submitter | clinical testing | NM_206933.2(USH2A):c.2269A>T(K757*) is expected to be pathogenic in the context of USH2A-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 USH2A, 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. |
Baylor Genetics | RCV003464447 | SCV004206314 | likely pathogenic | Retinitis pigmentosa 39 | 2023-02-25 | criteria provided, single submitter | clinical testing |