Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041681 | SCV000065377 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | "Asn3617Asn in Exon 55 of USH2A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.7% (62/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs12073994)." |
Gene |
RCV000041681 | SCV000169758 | benign | not specified | 2013-04-04 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Prevention |
RCV000041681 | SCV000317186 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000964832 | SCV001112075 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002504921 | SCV002803349 | likely benign | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2021-10-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450743 | SCV004182170 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450742 | SCV004182171 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |