Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523328 | SCV000619633 | uncertain significance | not provided | 2023-08-22 | criteria provided, single submitter | clinical testing | Reported in a patient with congenital bilateral hearing impairment in published literature (Zazo Seco et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 34681017, 28000701) |