Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000254265 | SCV000315347 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000834097 | SCV000975865 | benign | not provided | 2018-06-13 | 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- |
RCV001582880 | SCV001821703 | benign | Autosomal dominant nonsyndromic hearing loss 13 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001582881 | SCV001821704 | benign | Autosomal recessive nonsyndromic hearing loss 53 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001582882 | SCV001821705 | benign | Fibrochondrogenesis 2 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001582878 | SCV001821706 | benign | Otospondylomegaepiphyseal dysplasia, autosomal dominant | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001582879 | SCV001821707 | benign | Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2021-07-22 | criteria provided, single submitter | clinical testing |