Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041742 | SCV000065438 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Arg4480Arg in exon 63 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 0.7% (46/7020) of Europe an American chromosomes and 0.1% (5/3738) of African American chromosomes from a broad population by the NHLBI Exome sequencing project (http://evs.gs.washingto n.edu/EVS/; dbSNP rs111033378), and it has been listed as benign in two publicat ions (Dreyer 2008, McGee 2010). |
Eurofins Ntd Llc |
RCV000041742 | SCV000114878 | benign | not specified | 2013-10-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000488103 | SCV000574809 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | USH2A: BP4, BP7, BS2 |
ARUP Laboratories, |
RCV000488103 | SCV000884849 | benign | not provided | 2020-03-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000488103 | SCV001101517 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001276154 | SCV001712295 | benign | Usher syndrome type 2A | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001579144 | SCV001806565 | benign | Retinitis pigmentosa 39 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000488103 | SCV001851938 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276154 | SCV001462008 | benign | Usher syndrome type 2A | 2020-09-16 | no assertion criteria provided | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000041742 | SCV001959147 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000488103 | SCV001967991 | likely benign | not provided | no assertion criteria provided | clinical testing |