Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409402 | SCV000486931 | likely pathogenic | Pendred syndrome | 2016-09-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000797602 | SCV000937168 | pathogenic | not provided | 2023-09-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu48*) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC26A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 371369). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000409402 | SCV002026509 | likely pathogenic | Pendred syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003475968 | SCV004201881 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2023-08-28 | criteria provided, single submitter | clinical testing |