Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169591 | SCV000221099 | likely pathogenic | Pendred syndrome | 2015-01-29 | criteria provided, single submitter | literature only | |
Gene |
RCV000760432 | SCV000890315 | pathogenic | not provided | 2022-01-17 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 21961810, 24913939, 26252218, 30842343, 30275481, 31541171, 24612839, 22289209, 23918157) |
Invitae | RCV000760432 | SCV001376751 | pathogenic | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln696*) 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 present in population databases (rs752807925, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with SLC26A4-related conditions (PMID: 21961810, 22289209, 26252218). ClinVar contains an entry for this variant (Variation ID: 189164). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000770868 | SCV002026964 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000169591 | SCV002026965 | pathogenic | Pendred syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000770868 | SCV004201846 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2023-10-07 | criteria provided, single submitter | clinical testing | |
Genetic Testing Center for Deafness, |
RCV000770868 | SCV000902379 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2019-02-26 | no assertion criteria provided | case-control | |
Natera, |
RCV000169591 | SCV001459938 | pathogenic | Pendred syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |