Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724948 | SCV000332667 | uncertain significance | not provided | 2015-07-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000387630 | SCV000711233 | likely benign | not specified | 2018-01-09 | criteria provided, single submitter | clinical testing | p.Val3823Ile in exon 59 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.4% (45/10404) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs142481947). 0.4% (95/23930) of African chromosomes by the Genome Aggr egation Database (gnomAD, http://gnomad.broadinstitute.org). |
Labcorp Genetics |
RCV000724948 | SCV001038516 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001073259 | SCV001238795 | uncertain significance | Retinal dystrophy | 2018-09-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724948 | SCV001805468 | uncertain significance | not provided | 2021-12-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002518828 | SCV003614333 | uncertain significance | Inborn genetic diseases | 2022-11-07 | criteria provided, single submitter | clinical testing | The c.11467G>A (p.V3823I) alteration is located in exon 59 (coding exon 58) of the USH2A gene. This alteration results from a G to A substitution at nucleotide position 11467, causing the valine (V) at amino acid position 3823 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV004535263 | SCV004721045 | likely benign | USH2A-related disorder | 2023-09-22 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001274939 | SCV001459522 | uncertain significance | Usher syndrome type 2A | 2019-11-06 | no assertion criteria provided | clinical testing |