Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000829503 | SCV000971233 | benign | not provided | 2018-06-14 | 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- |
RCV001533298 | SCV001749135 | benign | Autosomal dominant nonsyndromic hearing loss 11 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001533299 | SCV001749136 | benign | Autosomal recessive nonsyndromic hearing loss 2 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001533300 | SCV001749137 | benign | Usher syndrome type 1 | 2021-07-01 | criteria provided, single submitter | clinical testing |