Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000601229 | SCV000731698 | likely benign | not specified | 2017-06-22 | criteria provided, single submitter | clinical testing | p.Ser4700Ser in exon 64 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/30782 South A sian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broad institute.org/; dbSNP rs778162193). |
Invitae | RCV000930244 | SCV001075892 | likely benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451458 | SCV004183103 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451457 | SCV004183104 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965294 | SCV004778946 | likely benign | USH2A-related condition | 2019-09-23 | 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). |