Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000599908 | SCV000711239 | benign | not specified | 2017-11-22 | criteria provided, single submitter | clinical testing | c.4758+3A>G in intron 22 of USH2A: This variant is not expected to have clinical significance because it has been identified in 1.9% (348/18756) of East Asian c hromosomes, including 4 homozygotes, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs117798425). ACMG/AMP Criteria applie d: BA1. |
Eurofins Ntd Llc |
RCV000599908 | SCV000856091 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000907794 | SCV001052521 | benign | not provided | 2025-01-23 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986536 | SCV001135554 | likely benign | Usher syndrome type 2A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000907794 | SCV001941370 | benign | not provided | 2018-12-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25445212, 25404053, 30245029, 29625443, 31180159, 31904091, 32090030, 32893482, 33090715) |
Fulgent Genetics, |
RCV002492523 | SCV002801870 | likely benign | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2022-02-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445558 | SCV004172136 | likely benign | Retinitis pigmentosa 39 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000986536 | SCV004172137 | likely benign | Usher syndrome type 2A | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000907794 | SCV005093422 | likely benign | not provided | 2025-06-01 | criteria provided, single submitter | clinical testing | USH2A: BS1 |
Molecular Diagnostics Laboratory, |
RCV000144478 | SCV000189613 | uncertain significance | Leber congenital amaurosis | 2014-09-18 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000986536 | SCV001455638 | benign | Usher syndrome type 2A | 2020-06-24 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004732703 | SCV005350987 | likely benign | USH2A-related disorder | 2024-08-26 | no assertion criteria provided | 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). |