Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041793 | SCV000065489 | likely benign | not specified | 2010-09-16 | criteria provided, single submitter | clinical testing | Thr530Thr in exon 9 of USH2A: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located near a splice junction. |
Eurofins Ntd Llc |
RCV000726814 | SCV000703240 | uncertain significance | not provided | 2016-11-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000726814 | SCV001054861 | likely benign | not provided | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726814 | SCV001802010 | likely benign | not provided | 2021-06-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001826593 | SCV002093980 | likely benign | Usher syndrome type 2A | 2020-11-02 | no assertion criteria provided | clinical testing |