Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041869 | SCV000065565 | pathogenic | Rare genetic deafness | 2010-04-13 | criteria provided, single submitter | clinical testing | The Arg1930X variant has not been reported in the literature nor previously iden tified by our laboratory. The Arg1930X variant leads to a premature stop codon a t position 1930 which is predicted to lead to a truncated or absent protein. The refore, this variant is highly likely to be pathogenic. |
Counsyl | RCV000668739 | SCV000793389 | likely pathogenic | Usher syndrome, type 2A; Retinitis pigmentosa 39 | 2017-08-15 | criteria provided, single submitter | clinical testing |