Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000838369 | SCV000980235 | benign | not provided | 2018-05-04 | 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. |
Ce |
RCV000838369 | SCV001334781 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | PTPRQ: BP4, BP7 |
Fulgent Genetics, |
RCV002501167 | SCV002805982 | benign | Autosomal recessive nonsyndromic hearing loss 84A; Hearing loss, autosomal dominant 73 | 2021-09-08 | criteria provided, single submitter | clinical testing |