Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041753 | SCV000065449 | likely benign | not specified | 2012-01-27 | criteria provided, single submitter | clinical testing | Cys4728Cys in exon 65 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
Counsyl | RCV000666988 | SCV000791372 | likely benign | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-05-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000977632 | SCV001125551 | likely benign | not provided | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000977632 | SCV004125594 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | USH2A: BP4, BP7 |
Genome- |
RCV003450785 | SCV004183094 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450784 | SCV004183095 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |