Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124672 | SCV000168106 | benign | not specified | 2013-03-19 | 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. |
Prevention |
RCV000124672 | SCV000312545 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001512999 | SCV001720517 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001512999 | SCV002049881 | benign | not provided | 2021-09-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505084 | SCV002794695 | likely benign | Autosomal recessive nonsyndromic hearing loss 31; Usher syndrome type 2D | 2022-01-07 | criteria provided, single submitter | clinical testing |