Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155755 | SCV000205466 | likely benign | not specified | 2013-07-05 | criteria provided, single submitter | clinical testing | Arg3941Gln in Exon 61 of USH2A: This variant is not expected to have clinical si gnificance because the Arg residue at position 3941 is not conserved in several species and megabat, tenrec, and sloth) have a glutamine (Gln) at this position despite high nearby amino acid conservation. In addition, computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2) predict the variant will not impact the protein. |
Counsyl | RCV000671917 | SCV000796951 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2018-01-08 | criteria provided, single submitter | clinical testing |