Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723740 | SCV000203775 | uncertain significance | not provided | 2014-04-25 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000155329 | SCV000205015 | likely benign | not specified | 2013-06-13 | criteria provided, single submitter | clinical testing | Asn1683Ser in Exon 25 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (14/4392) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs140080678) and computational analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein. |
Invitae | RCV000723740 | SCV001074525 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000723740 | SCV001778587 | uncertain significance | not provided | 2021-04-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001273050 | SCV001455636 | likely benign | Usher syndrome type 2A | 2020-04-30 | no assertion criteria provided | clinical testing |