Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155407 | SCV000205094 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | Pro1978Ser in Exon 30 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (20/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs75698489). |
Eurofins Ntd Llc |
RCV000155407 | SCV000340857 | likely benign | not specified | 2016-05-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000657074 | SCV000617261 | likely benign | not provided | 2020-12-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25262649, 20507924) |
Invitae | RCV000657074 | SCV001043557 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000657074 | SCV001146615 | likely benign | not provided | 2019-02-11 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000155407 | SCV001159100 | benign | not specified | 2018-09-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453177 | SCV004181744 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001273045 | SCV004181745 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965164 | SCV004779082 | likely benign | USH2A-related condition | 2020-10-02 | 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, |
RCV001273045 | SCV001455628 | likely benign | Usher syndrome type 2A | 2020-01-08 | no assertion criteria provided | clinical testing |