Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670819 | SCV000795723 | uncertain significance | Pendred syndrome | 2017-11-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003228978 | SCV003926436 | uncertain significance | not provided | 2023-05-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in a patient with sensorineural hearing loss, enlarged vestibular aqueduct, and Mondini malformation in published literature, however, a second SLC26A4 variant was not identified (Dai et al., 2008); This variant is associated with the following publications: (PMID: 19744334, 33199029, 19040761, 26252218, 27771369, 30842343) |