Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008719 | SCV001168500 | pathogenic | not provided | 2019-07-08 | criteria provided, single submitter | clinical testing | The c.6696delT variant has been reported previously in association with autosomal recessive hearing loss (Sloan-Heggen et al., 2016). 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. |
Invitae | RCV001008719 | SCV001409030 | pathogenic | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val2233*) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with autosomal recessive non-syndromic hearing loss (PMID: 26969326). ClinVar contains an entry for this variant (Variation ID: 817561). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001008719 | SCV003823093 | likely pathogenic | not provided | 2022-02-20 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003473555 | SCV004210628 | pathogenic | Pituitary adenoma 5, multiple types | 2023-08-24 | criteria provided, single submitter | clinical testing |