Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041265 | SCV000064956 | benign | not specified | 2012-03-26 | criteria provided, single submitter | clinical testing | 2134-12T>C in intron 21 of USH1C: This variant is not expected to have clinical significance because it has been identified in 7.7% (524/7020) of European Ameri can chromosomes and 1.7% (62/3738) of African American chromosomes in a broad po pulation by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS /; dbSNP rs76769358). |
Gene |
RCV000041265 | SCV000169727 | benign | not specified | 2013-05-08 | 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. |
Genome- |
RCV001538017 | SCV001755000 | benign | Usher syndrome type 1C | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001538018 | SCV001755001 | benign | Autosomal recessive nonsyndromic hearing loss 18A | 2021-07-10 | criteria provided, single submitter | clinical testing |