Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV000681526 | SCV002521692 | pathogenic | Autosomal recessive nonsyndromic hearing loss 42 | 2022-05-22 | criteria provided, single submitter | clinical testing | The substitution creates a nonsense variant, which is expected to cause a loss of normal protein function via nonsense-mediated mRNA decay. This variant has been reported as pathogenic (ClinVar ID: VCV000562073, PMID:30303587). It has been reported with an extremely low frequency in the gnomAD v2.1.1. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Gene |
RCV002284425 | SCV002574350 | likely pathogenic | not provided | 2022-06-21 | 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: 31589614, 30303587) |
National Institute on Deafness and Communication Disorders, |
RCV000681526 | SCV000807717 | pathogenic | Autosomal recessive nonsyndromic hearing loss 42 | 2018-07-05 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV001291344 | SCV001479818 | likely pathogenic | Hearing loss, autosomal recessive | no assertion criteria provided | research |