Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038471 | SCV000062149 | benign | not specified | 2013-01-09 | criteria provided, single submitter | clinical testing | This variant has been identified in 3.8% (324/8600) of European American chromos omes from a broad population by the NHLBI Exome Sequencing Project (http://evs.g s.washington.edu/EVS/; dbSNP rs33962952) |
Prevention |
RCV000038471 | SCV000311036 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000038471 | SCV000717122 | benign | not specified | 2017-11-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
OMIM | RCV000008627 | SCV000028835 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 48 | 2014-05-01 | no assertion criteria provided | literature only |