Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668629 | SCV000793263 | likely pathogenic | Pendred syndrome | 2017-08-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000760431 | SCV000890314 | pathogenic | not provided | 2018-11-27 | criteria provided, single submitter | clinical testing | The W472X nonsense variant has been reported previously in association with hearing loss (Yao et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic. |
Genome- |
RCV001785695 | SCV002026930 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000668629 | SCV002026931 | likely pathogenic | Pendred syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing |