Total submissions: 6
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. |
EGL Genetic Diagnostics, |
RCV000599908 | SCV000856091 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000907794 | SCV001052521 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986536 | SCV001135554 | likely benign | Usher syndrome, type 2A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
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 |